BACH2 (BTB domain and CNC homolog 2) - Rat Genome Database

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Gene: BACH2 (BTB domain and CNC homolog 2) Homo sapiens
Analyze
Symbol: BACH2
Name: BTB domain and CNC homolog 2
RGD ID: 1319503
HGNC Page HGNC:14078
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BTB and CNC homolog 2; BTB and CNC homology 1, basic leucine zipper transcription factor 2; BTBD25; IMD60; transcription regulator protein BACH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38689,926,528 - 90,296,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl689,926,528 - 90,296,923 (-)Ensemblhg38GRCh38
GRCh37690,636,247 - 91,006,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36690,692,969 - 91,063,182 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34690,692,968 - 91,063,182NCBI
Celera691,056,791 - 91,427,144 (-)NCBICelera
Cytogenetic Map6q15NCBI
HuRef687,855,580 - 88,225,476 (-)NCBIHuRef
CHM1_1690,733,911 - 91,104,124 (-)NCBICHM1_1
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (EXP)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-Zearalanol  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsenic trichloride  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
chromium(3+) trichloride  (ISO)
clobetasol  (ISO)
cocaine  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
Diisodecyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
GSK-J4  (EXP)
ionomycin  (EXP)
isoflurane  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thiram  (EXP)
trametinib  (EXP)
Tributyltin oxide  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8887638   PMID:10669750   PMID:10809773   PMID:10949928   PMID:11746976   PMID:11923289   PMID:12477932   PMID:12829606   PMID:14574404   PMID:14982850   PMID:15060166   PMID:15146197  
PMID:16344560   PMID:16832351   PMID:17018862   PMID:17044046   PMID:17262715   PMID:17383980   PMID:17620599   PMID:17991429   PMID:18256039   PMID:18769450   PMID:18840781   PMID:18929412  
PMID:18978792   PMID:19073967   PMID:19274049   PMID:19430480   PMID:20125193   PMID:20190752   PMID:20203524   PMID:20379614   PMID:20647273   PMID:21102463   PMID:21145461   PMID:21412927  
PMID:21829393   PMID:21833088   PMID:21841780   PMID:21873635   PMID:22194330   PMID:22561518   PMID:22589738   PMID:22858985   PMID:22899287   PMID:23128233   PMID:23251661   PMID:23273568  
PMID:23382691   PMID:23661758   PMID:23852341   PMID:23865571   PMID:23936317   PMID:24022229   PMID:24075570   PMID:24346624   PMID:24450488   PMID:24586183   PMID:24608439   PMID:24858026  
PMID:24968937   PMID:24999842   PMID:25011556   PMID:25013050   PMID:25444856   PMID:25670004   PMID:25873652   PMID:26186194   PMID:26444573   PMID:26969735   PMID:27052415   PMID:27206783  
PMID:27680876   PMID:28030830   PMID:28256087   PMID:28473536   PMID:28514442   PMID:28530713   PMID:28592433   PMID:28718761   PMID:28887441   PMID:29129929   PMID:29452228   PMID:29459360  
PMID:29529253   PMID:29991969   PMID:30250186   PMID:30654767   PMID:30970177   PMID:31501353   PMID:31753913   PMID:31808546   PMID:32082072   PMID:32236312   PMID:32296183   PMID:32892482  
PMID:33187986   PMID:33316352   PMID:33393145   PMID:33447883   PMID:33875646   PMID:33903979   PMID:33961781   PMID:33966174   PMID:34907913   PMID:35016035   PMID:35264460   PMID:35544467  
PMID:35563538   PMID:36178457   PMID:36573315   PMID:36781170   PMID:37532764   PMID:38459508   PMID:38580884   PMID:38824974   PMID:38901430   PMID:39009838  


Genomics

Comparative Map Data
BACH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38689,926,528 - 90,296,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl689,926,528 - 90,296,923 (-)Ensemblhg38GRCh38
GRCh37690,636,247 - 91,006,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36690,692,969 - 91,063,182 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34690,692,968 - 91,063,182NCBI
Celera691,056,791 - 91,427,144 (-)NCBICelera
Cytogenetic Map6q15NCBI
HuRef687,855,580 - 88,225,476 (-)NCBIHuRef
CHM1_1690,733,911 - 91,104,124 (-)NCBICHM1_1
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBIT2T-CHM13v2.0
Bach2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39432,238,413 - 32,586,109 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl432,238,804 - 32,586,108 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38432,238,413 - 32,586,109 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl432,238,804 - 32,586,108 (+)Ensemblmm10GRCm38
MGSCv37432,504,410 - 32,673,083 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36432,567,563 - 32,909,812 (+)NCBIMGSCv36mm8
Celera432,164,289 - 32,333,354 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map414.02NCBI
Bach2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8551,428,802 - 51,779,030 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl551,434,870 - 51,774,234 (+)EnsemblGRCr8
mRatBN7.2546,632,338 - 46,982,676 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl546,638,317 - 46,977,877 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx548,859,726 - 49,119,822 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0550,458,890 - 50,718,988 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0550,402,412 - 50,664,315 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0547,458,891 - 47,807,176 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl547,546,014 - 47,807,166 (+)Ensemblrn6Rnor6.0
Rnor_5.0552,073,295 - 52,410,910 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4548,611,805 - 48,881,943 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera545,479,904 - 45,738,863 (+)NCBICelera
Cytogenetic Map5q21NCBI
Bach2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541116,613,397 - 16,877,834 (-)Ensembl
ChiLan1.0NW_00495541116,607,546 - 16,947,359 (-)NCBIChiLan1.0ChiLan1.0
BACH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25110,011,721 - 110,381,491 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16107,912,858 - 108,282,578 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0687,806,188 - 88,175,840 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1691,081,381 - 91,212,497 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl691,083,533 - 91,160,552 (-)EnsemblpanPan2panpan1.1
BACH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11249,101,621 - 49,375,415 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1249,106,523 - 49,460,286 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1248,908,403 - 49,267,597 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01249,910,921 - 50,270,587 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1249,916,822 - 50,270,719 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11249,225,818 - 49,503,613 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01249,126,581 - 49,485,448 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01249,318,946 - 49,677,611 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Bach2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494684,094,552 - 84,429,900 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365102,299,831 - 2,371,544 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365102,041,004 - 2,375,215 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BACH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl157,899,808 - 58,281,430 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1157,881,203 - 58,281,740 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2164,904,041 - 65,200,342 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BACH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11314,681,323 - 15,049,690 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1314,687,188 - 14,763,706 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666040191,077,385 - 191,445,395 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bach2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247993,984,546 - 4,256,898 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247993,893,548 - 4,262,344 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Bach2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11110,442,274 - 110,780,624 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in BACH2
571 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NM_021813.4(BACH2):c.1044G>A (p.Thr348=) single nucleotide variant not provided [RCV002216368] Chr6:89951062 [GRCh38]
Chr6:90660781 [GRCh37]
Chr6:90717502 [NCBI36]
Chr6:6q15		 likely benign|not provided
NM_001170794.1(BACH2):c.1852C>T (p.Pro618Ser) single nucleotide variant Malignant melanoma [RCV000061500] Chr6:89938335 [GRCh38]
Chr6:90648054 [GRCh37]
Chr6:90704775 [NCBI36]
Chr6:6q15		 not provided
NM_001170794.1(BACH2):c.-161-15474G>T single nucleotide variant Lung cancer [RCV000097256] Chr6:90104583 [GRCh38]
Chr6:90814302 [GRCh37]
Chr6:6q15		 uncertain significance
NM_001170794.1(BACH2):c.-162+48427G>T single nucleotide variant Lung cancer [RCV000097257] Chr6:90158142 [GRCh38]
Chr6:90867861 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1102C>T (p.Pro368Ser) single nucleotide variant Immunodeficiency 60 [RCV001332410]|not provided [RCV002546559] Chr6:89951004 [GRCh38]
Chr6:90660723 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q15(chr6:89931798-91707636)x3 copy number gain See cases [RCV000134297] Chr6:89931798..91707636 [GRCh38]
Chr6:90641517..92417354 [GRCh37]
Chr6:90698238..92474075 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 copy number loss See cases [RCV000135450] Chr6:85804273..93189258 [GRCh38]
Chr6:86513991..93898976 [GRCh37]
Chr6:86570710..93955697 [NCBI36]
Chr6:6q14.3-16.1		 pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15		 pathogenic
GRCh38/hg38 6q15(chr6:90066705-90579827)x3 copy number gain See cases [RCV000138045] Chr6:90066705..90579827 [GRCh38]
Chr6:90776424..91289546 [GRCh37]
Chr6:90833145..91346267 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q15(chr6:90066705-90571680)x3 copy number gain See cases [RCV000140302] Chr6:90066705..90571680 [GRCh38]
Chr6:90776424..91281399 [GRCh37]
Chr6:90833145..91338120 [NCBI36]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q15(chr6:90774789-91295547)x3 copy number gain See cases [RCV000447562] Chr6:90774789..91295547 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3 copy number gain See cases [RCV000511573] Chr6:89941373..95634177 [GRCh37]
Chr6:6q15-16.1		 likely benign
GRCh37/hg19 6q15(chr6:90774789-91284990)x3 copy number gain See cases [RCV000511261] Chr6:90774789..91284990 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90887390-91728519)x3 copy number gain See cases [RCV000663398] Chr6:90887390..91728519 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q15(chr6:90296588-90646226)x3 copy number gain not provided [RCV000745905] Chr6:90296588..90646226 [GRCh37]
Chr6:6q15		 benign
GRCh37/hg19 6q15(chr6:90772256-91284990)x3 copy number gain not provided [RCV000745906] Chr6:90772256..91284990 [GRCh37]
Chr6:6q15		 benign
GRCh37/hg19 6q15(chr6:91005130-91006749)x1 copy number loss not provided [RCV000745907] Chr6:91005130..91006749 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.15G>A (p.Glu5=) single nucleotide variant BACH2-related disorder [RCV003978330]|Immunodeficiency 60 [RCV002489337]|not provided [RCV000958580] Chr6:90008830 [GRCh38]
Chr6:90718549 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2103A>G (p.Glu701=) single nucleotide variant not provided [RCV000892642] Chr6:89932831 [GRCh38]
Chr6:90642550 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1252G>A (p.Ala418Thr) single nucleotide variant BACH2-related disorder [RCV003920529]|not provided [RCV000881250] Chr6:89950854 [GRCh38]
Chr6:90660573 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2267C>A (p.Ala756Glu) single nucleotide variant not specified [RCV004299644] Chr6:89932667 [GRCh38]
Chr6:90642386 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.71T>C (p.Leu24Pro) single nucleotide variant Immunodeficiency 60 [RCV000767852] Chr6:90008774 [GRCh38]
Chr6:90718493 [GRCh37]
Chr6:6q15		 pathogenic
NM_021813.4(BACH2):c.2362G>A (p.Glu788Lys) single nucleotide variant Immunodeficiency 60 [RCV000767853]|not provided [RCV001531012] Chr6:89932572 [GRCh38]
Chr6:90642291 [GRCh37]
Chr6:6q15		 pathogenic|uncertain significance
NM_021813.4(BACH2):c.1727G>A (p.Arg576Gln) single nucleotide variant not provided [RCV000788895] Chr6:89950379 [GRCh38]
Chr6:90660098 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1735A>G (p.Ile579Val) single nucleotide variant not provided [RCV000926677] Chr6:89950371 [GRCh38]
Chr6:90660090 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1 copy number loss not provided [RCV000848967] Chr6:87627836..93698486 [GRCh37]
Chr6:6q14.3-16.1		 uncertain significance
NM_021813.4(BACH2):c.2230A>G (p.Ile744Val) single nucleotide variant BACH2-related disorder [RCV003413584]|not provided [RCV000788691]|not specified [RCV004027372] Chr6:89932704 [GRCh38]
Chr6:90642423 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.955A>G (p.Thr319Ala) single nucleotide variant Immunodeficiency 60 [RCV003224468]|not provided [RCV000788775]|not specified [RCV004601272] Chr6:89951151 [GRCh38]
Chr6:90660870 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3 copy number gain not provided [RCV000849950] Chr6:88783642..96282103 [GRCh37]
Chr6:6q15-16.1		 uncertain significance
GRCh37/hg19 6q15(chr6:90108876-90806063)x3 copy number gain not provided [RCV001005830] Chr6:90108876..90806063 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.672G>A (p.Ala224=) single nucleotide variant not provided [RCV003105090] Chr6:89951434 [GRCh38]
Chr6:90661153 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2036G>A (p.Arg679His) single nucleotide variant not provided [RCV003104454]|not specified [RCV005288932] Chr6:89938151 [GRCh38]
Chr6:90647870 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1536C>G (p.Pro512=) single nucleotide variant BACH2-related disorder [RCV003910515]|not provided [RCV000887869] Chr6:89950570 [GRCh38]
Chr6:90660289 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV000961743] Chr6:89932573 [GRCh38]
Chr6:90642292 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.583G>A (p.Ala195Thr) single nucleotide variant BACH2-related disorder [RCV003977964]|not provided [RCV000909615] Chr6:89951523 [GRCh38]
Chr6:90661242 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.2326C>A (p.Pro776Thr) single nucleotide variant not provided [RCV001090673]|not specified [RCV004031965] Chr6:89932608 [GRCh38]
Chr6:90642327 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.616C>G (p.Leu206Val) single nucleotide variant not specified [RCV004162362] Chr6:89951490 [GRCh38]
Chr6:90661209 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90085893-90910484)x3 copy number gain not provided [RCV001259391] Chr6:90085893..90910484 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90285430-90706261)x3 copy number gain not provided [RCV001259392] Chr6:90285430..90706261 [GRCh37]
Chr6:6q15		 uncertain significance
NC_000006.11:g.(?_90518279)_(91296602_?)dup duplication not provided [RCV001339947] Chr6:90518279..91296602 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2296G>A (p.Val766Met) single nucleotide variant not provided [RCV001297624]|not specified [RCV005298762] Chr6:89932638 [GRCh38]
Chr6:90642357 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2277A>G (p.Gln759=) single nucleotide variant not provided [RCV001313629] Chr6:89932657 [GRCh38]
Chr6:90642376 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.2217C>T (p.Pro739=) single nucleotide variant not provided [RCV001423216] Chr6:89932717 [GRCh38]
Chr6:90642436 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1309G>A (p.Ala437Thr) single nucleotide variant not provided [RCV001358182]|not specified [RCV004887678] Chr6:89950797 [GRCh38]
Chr6:90660516 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.435G>A (p.Lys145=) single nucleotide variant not provided [RCV001373573] Chr6:89951671 [GRCh38]
Chr6:90661390 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.1843C>A (p.Leu615Ile) single nucleotide variant not provided [RCV001354596] Chr6:89938344 [GRCh38]
Chr6:90648063 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1724T>C (p.Val575Ala) single nucleotide variant Immunodeficiency 60 [RCV001270769] Chr6:89950382 [GRCh38]
Chr6:90660101 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1506A>G (p.Val502=) single nucleotide variant Immunodeficiency 60 [RCV001553899]|not provided [RCV001509839]|not specified [RCV003399268] Chr6:89950600 [GRCh38]
Chr6:90660319 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1227G>C (p.Ser409=) single nucleotide variant not provided [RCV001512008] Chr6:89950879 [GRCh38]
Chr6:90660598 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.2220G>A (p.Thr740=) single nucleotide variant BACH2-related disorder [RCV003948455]|not provided [RCV001497552] Chr6:89932714 [GRCh38]
Chr6:90642433 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2457C>T (p.Thr819=) single nucleotide variant not provided [RCV001453766] Chr6:89932477 [GRCh38]
Chr6:90642196 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.624C>T (p.Pro208=) single nucleotide variant not provided [RCV001416051] Chr6:89951482 [GRCh38]
Chr6:90661201 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1071C>T (p.Pro357=) single nucleotide variant not provided [RCV001514431]|not specified [RCV003399281] Chr6:89951035 [GRCh38]
Chr6:90660754 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.249A>G (p.Thr83=) single nucleotide variant Immunodeficiency 60 [RCV001553900]|not provided [RCV001514432]|not specified [RCV003394090] Chr6:89951857 [GRCh38]
Chr6:90661576 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.168C>T (p.Ala56=) single nucleotide variant BACH2-related disorder [RCV003956168]|not provided [RCV001515672] Chr6:90008677 [GRCh38]
Chr6:90718396 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.1435G>A (p.Ala479Thr) single nucleotide variant BACH2-related disorder [RCV003948482]|not provided [RCV001506674] Chr6:89950671 [GRCh38]
Chr6:90660390 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.1244G>A (p.Gly415Glu) single nucleotide variant BACH2-related disorder [RCV003900647]|not provided [RCV001476397] Chr6:89950862 [GRCh38]
Chr6:90660581 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.579G>A (p.Glu193=) single nucleotide variant BACH2-related disorder [RCV003931001]|not provided [RCV001482618] Chr6:89951527 [GRCh38]
Chr6:90661246 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2160C>T (p.Pro720=) single nucleotide variant not provided [RCV001517542] Chr6:89932774 [GRCh38]
Chr6:90642493 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.871C>G (p.Leu291Val) single nucleotide variant not provided [RCV001517543] Chr6:89951235 [GRCh38]
Chr6:90660954 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1332G>A (p.Ser444=) single nucleotide variant not provided [RCV001454649] Chr6:89950774 [GRCh38]
Chr6:90660493 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2295C>T (p.Asn765=) single nucleotide variant not provided [RCV001515478]|not specified [RCV003487343] Chr6:89932639 [GRCh38]
Chr6:90642358 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1587G>A (p.Ala529=) single nucleotide variant not provided [RCV001399292] Chr6:89950519 [GRCh38]
Chr6:90660238 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1 copy number loss not provided [RCV001832990] Chr6:90008961..93761490 [GRCh37]
Chr6:6q15-16.1		 uncertain significance
NM_021813.4(BACH2):c.2428C>T (p.Pro810Ser) single nucleotide variant not provided [RCV002045276] Chr6:89932506 [GRCh38]
Chr6:90642225 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.484G>C (p.Glu162Gln) single nucleotide variant not provided [RCV001971056] Chr6:89951622 [GRCh38]
Chr6:90661341 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2132A>G (p.Gln711Arg) single nucleotide variant not provided [RCV001971403]|not specified [RCV004042333] Chr6:89932802 [GRCh38]
Chr6:90642521 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1825A>G (p.Arg609Gly) single nucleotide variant not provided [RCV001971285]|not specified [RCV004042262] Chr6:89950281 [GRCh38]
Chr6:90660000 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1211A>G (p.Asn404Ser) single nucleotide variant not provided [RCV001929797] Chr6:89950895 [GRCh38]
Chr6:90660614 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1534C>G (p.Pro512Ala) single nucleotide variant not provided [RCV001870605] Chr6:89950572 [GRCh38]
Chr6:90660291 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.999G>T (p.Arg333Ser) single nucleotide variant not provided [RCV001948503] Chr6:89951107 [GRCh38]
Chr6:90660826 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2281G>A (p.Ala761Thr) single nucleotide variant not provided [RCV001863925] Chr6:89932653 [GRCh38]
Chr6:90642372 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2151C>G (p.Ile717Met) single nucleotide variant not provided [RCV001969783] Chr6:89932783 [GRCh38]
Chr6:90642502 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.100G>A (p.Asp34Asn) single nucleotide variant not provided [RCV002003576] Chr6:90008745 [GRCh38]
Chr6:90718464 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1006G>C (p.Ala336Pro) single nucleotide variant not provided [RCV002040448] Chr6:89951100 [GRCh38]
Chr6:90660819 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1656G>T (p.Gln552His) single nucleotide variant not provided [RCV001909245]|not specified [RCV004042740] Chr6:89950450 [GRCh38]
Chr6:90660169 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2315C>T (p.Pro772Leu) single nucleotide variant not provided [RCV002039651]|not specified [RCV004038864] Chr6:89932619 [GRCh38]
Chr6:90642338 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1364A>G (p.Asp455Gly) single nucleotide variant not provided [RCV001983672] Chr6:89950742 [GRCh38]
Chr6:90660461 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q15(chr6:90189085-90697359) copy number gain not specified [RCV002053597] Chr6:90189085..90697359 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1045A>G (p.Lys349Glu) single nucleotide variant not provided [RCV001984383] Chr6:89951061 [GRCh38]
Chr6:90660780 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1362G>T (p.Leu454Phe) single nucleotide variant not provided [RCV002005169] Chr6:89950744 [GRCh38]
Chr6:90660463 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.486GGA[2] (p.Glu164del) microsatellite not provided [RCV001893222] Chr6:89951612..89951614 [GRCh38]
Chr6:90661331..90661333 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.240G>T (p.Glu80Asp) single nucleotide variant not provided [RCV001891398] Chr6:90008605 [GRCh38]
Chr6:90718324 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2294A>G (p.Asn765Ser) single nucleotide variant not provided [RCV001969534] Chr6:89932640 [GRCh38]
Chr6:90642359 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.485A>C (p.Glu162Ala) single nucleotide variant not provided [RCV001872173] Chr6:89951621 [GRCh38]
Chr6:90661340 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.506A>C (p.Glu169Ala) single nucleotide variant not provided [RCV001894342] Chr6:89951600 [GRCh38]
Chr6:90661319 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
NM_021813.4(BACH2):c.839C>T (p.Pro280Leu) single nucleotide variant not provided [RCV002005934] Chr6:89951267 [GRCh38]
Chr6:90660986 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2183G>A (p.Arg728Gln) single nucleotide variant BACH2-related disorder [RCV003426240]|not provided [RCV001893517] Chr6:89932751 [GRCh38]
Chr6:90642470 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.31A>C (p.Met11Leu) single nucleotide variant not provided [RCV001894380] Chr6:90008814 [GRCh38]
Chr6:90718533 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.766A>G (p.Thr256Ala) single nucleotide variant not provided [RCV001966919] Chr6:89951340 [GRCh38]
Chr6:90661059 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1586C>T (p.Ala529Val) single nucleotide variant not provided [RCV001945849] Chr6:89950520 [GRCh38]
Chr6:90660239 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1078T>A (p.Ser360Thr) single nucleotide variant not provided [RCV001945948] Chr6:89951028 [GRCh38]
Chr6:90660747 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.757T>G (p.Phe253Val) single nucleotide variant not provided [RCV002003240] Chr6:89951349 [GRCh38]
Chr6:90661068 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2402C>T (p.Pro801Leu) single nucleotide variant not provided [RCV001909421]|not specified [RCV004042776] Chr6:89932532 [GRCh38]
Chr6:90642251 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2327C>T (p.Pro776Leu) single nucleotide variant not provided [RCV001940778] Chr6:89932607 [GRCh38]
Chr6:90642326 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1081C>A (p.Gln361Lys) single nucleotide variant not provided [RCV002028292] Chr6:89951025 [GRCh38]
Chr6:90660744 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.627G>C (p.Glu209Asp) single nucleotide variant not provided [RCV002020314] Chr6:89951479 [GRCh38]
Chr6:90661198 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1346C>T (p.Ser449Phe) single nucleotide variant not provided [RCV001864702] Chr6:89950760 [GRCh38]
Chr6:90660479 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1410C>T (p.Ala470=) single nucleotide variant not provided [RCV002037821] Chr6:89950696 [GRCh38]
Chr6:90660415 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.898G>A (p.Ala300Thr) single nucleotide variant not provided [RCV001917343]|not specified [RCV004039106] Chr6:89951208 [GRCh38]
Chr6:90660927 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.452G>A (p.Arg151His) single nucleotide variant not provided [RCV002031796] Chr6:89951654 [GRCh38]
Chr6:90661373 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.889G>A (p.Glu297Lys) single nucleotide variant not provided [RCV002028186] Chr6:89951217 [GRCh38]
Chr6:90660936 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.551A>G (p.Gln184Arg) single nucleotide variant not provided [RCV001877392]|not specified [RCV005298902] Chr6:89951555 [GRCh38]
Chr6:90661274 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.634G>A (p.Val212Met) single nucleotide variant not provided [RCV001877450]|not specified [RCV004040603] Chr6:89951472 [GRCh38]
Chr6:90661191 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.891G>C (p.Glu297Asp) single nucleotide variant not provided [RCV001951752] Chr6:89951215 [GRCh38]
Chr6:90660934 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2203C>T (p.Pro735Ser) single nucleotide variant not provided [RCV001921207] Chr6:89932731 [GRCh38]
Chr6:90642450 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.952C>G (p.Pro318Ala) single nucleotide variant not provided [RCV002028421] Chr6:89951154 [GRCh38]
Chr6:90660873 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.503A>G (p.Glu168Gly) single nucleotide variant not provided [RCV001931543] Chr6:89951603 [GRCh38]
Chr6:90661322 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.431G>A (p.Arg144Gln) single nucleotide variant not provided [RCV001896956] Chr6:89951675 [GRCh38]
Chr6:90661394 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1331C>T (p.Ser444Leu) single nucleotide variant not provided [RCV001974673] Chr6:89950775 [GRCh38]
Chr6:90660494 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.92G>A (p.Arg31Gln) single nucleotide variant not provided [RCV001922867] Chr6:90008753 [GRCh38]
Chr6:90718472 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1340C>T (p.Ser447Phe) single nucleotide variant not provided [RCV001960258] Chr6:89950766 [GRCh38]
Chr6:90660485 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.716C>T (p.Thr239Ile) single nucleotide variant not provided [RCV002035066] Chr6:89951390 [GRCh38]
Chr6:90661109 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.595G>T (p.Val199Leu) single nucleotide variant not provided [RCV001997746] Chr6:89951511 [GRCh38]
Chr6:90661230 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1183C>T (p.Pro395Ser) single nucleotide variant not provided [RCV001884570] Chr6:89950923 [GRCh38]
Chr6:90660642 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.847G>A (p.Glu283Lys) single nucleotide variant not provided [RCV001899554] Chr6:89951259 [GRCh38]
Chr6:90660978 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.406A>C (p.Ser136Arg) single nucleotide variant not provided [RCV002035738] Chr6:89951700 [GRCh38]
Chr6:90661419 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.332G>A (p.Arg111His) single nucleotide variant not provided [RCV002036290]|not specified [RCV004044791] Chr6:89951774 [GRCh38]
Chr6:90661493 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.908G>A (p.Arg303Lys) single nucleotide variant not provided [RCV002035214] Chr6:89951198 [GRCh38]
Chr6:90660917 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1004T>C (p.Val335Ala) single nucleotide variant not provided [RCV001922971]|not specified [RCV004887685] Chr6:89951102 [GRCh38]
Chr6:90660821 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.864C>G (p.Ser288Arg) single nucleotide variant not provided [RCV001938757]|not specified [RCV004041883] Chr6:89951242 [GRCh38]
Chr6:90660961 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.195G>A (p.Ala65=) single nucleotide variant not provided [RCV001960662] Chr6:90008650 [GRCh38]
Chr6:90718369 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1337A>G (p.His446Arg) single nucleotide variant BACH2-related disorder [RCV003403661]|not provided [RCV002036430] Chr6:89950769 [GRCh38]
Chr6:90660488 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2267C>T (p.Ala756Val) single nucleotide variant not provided [RCV001878316]|not specified [RCV004039616] Chr6:89932667 [GRCh38]
Chr6:90642386 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2313_2314delinsAA (p.Pro772Thr) indel not provided [RCV001919972] Chr6:89932620..89932621 [GRCh38]
Chr6:90642339..90642340 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.962C>T (p.Thr321Met) single nucleotide variant not provided [RCV001979818]|not specified [RCV004603105] Chr6:89951144 [GRCh38]
Chr6:90660863 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1829G>A (p.Gly610Asp) single nucleotide variant not provided [RCV001900142] Chr6:89950277 [GRCh38]
Chr6:90659996 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1351G>T (p.Val451Leu) single nucleotide variant not provided [RCV001902619] Chr6:89950755 [GRCh38]
Chr6:90660474 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.613G>A (p.Ala205Thr) single nucleotide variant not provided [RCV001936794] Chr6:89951493 [GRCh38]
Chr6:90661212 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.836C>T (p.Pro279Leu) single nucleotide variant not provided [RCV001922209] Chr6:89951270 [GRCh38]
Chr6:90660989 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.911C>A (p.Ala304Glu) single nucleotide variant not provided [RCV001899729]|not specified [RCV004039775] Chr6:89951195 [GRCh38]
Chr6:90660914 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.670G>A (p.Ala224Thr) single nucleotide variant not provided [RCV001980359]|not specified [RCV004045274] Chr6:89951436 [GRCh38]
Chr6:90661155 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.1226C>T (p.Ser409Leu) single nucleotide variant not provided [RCV002019663]|not specified [RCV004045925] Chr6:89950880 [GRCh38]
Chr6:90660599 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1076C>T (p.Thr359Ile) single nucleotide variant BACH2-related disorder [RCV003948864]|not provided [RCV001999292] Chr6:89951030 [GRCh38]
Chr6:90660749 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1447G>A (p.Gly483Ser) single nucleotide variant not provided [RCV001924388] Chr6:89950659 [GRCh38]
Chr6:90660378 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.1252G>T (p.Ala418Ser) single nucleotide variant not provided [RCV001924454] Chr6:89950854 [GRCh38]
Chr6:90660573 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.680A>G (p.Gln227Arg) single nucleotide variant not provided [RCV002030639] Chr6:89951426 [GRCh38]
Chr6:90661145 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2240C>T (p.Ala747Val) single nucleotide variant not provided [RCV001902606]|not specified [RCV004041334] Chr6:89932694 [GRCh38]
Chr6:90642413 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1162T>C (p.Phe388Leu) single nucleotide variant not provided [RCV002027923] Chr6:89950944 [GRCh38]
Chr6:90660663 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.931C>G (p.Arg311Gly) single nucleotide variant not provided [RCV001898945] Chr6:89951175 [GRCh38]
Chr6:90660894 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2281G>T (p.Ala761Ser) single nucleotide variant BACH2-related disorder [RCV004752135]|not provided [RCV002048832] Chr6:89932653 [GRCh38]
Chr6:90642372 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1122G>C (p.Lys374Asn) single nucleotide variant not provided [RCV001957982]|not specified [RCV004887687] Chr6:89950984 [GRCh38]
Chr6:90660703 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.19C>T (p.Pro7Ser) single nucleotide variant not provided [RCV001900185] Chr6:90008826 [GRCh38]
Chr6:90718545 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.568A>G (p.Ile190Val) single nucleotide variant not provided [RCV001976998] Chr6:89951538 [GRCh38]
Chr6:90661257 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.971C>G (p.Ala324Gly) single nucleotide variant not provided [RCV001930804] Chr6:89951135 [GRCh38]
Chr6:90660854 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1779C>T (p.Ser593=) single nucleotide variant not provided [RCV002170550] Chr6:89950327 [GRCh38]
Chr6:90660046 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1290C>T (p.Ser430=) single nucleotide variant not provided [RCV002107592] Chr6:89950816 [GRCh38]
Chr6:90660535 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1425C>A (p.Pro475=) single nucleotide variant not provided [RCV002147325] Chr6:89950681 [GRCh38]
Chr6:90660400 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.744C>T (p.His248=) single nucleotide variant not provided [RCV002168593] Chr6:89951362 [GRCh38]
Chr6:90661081 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2241G>A (p.Ala747=) single nucleotide variant not provided [RCV002188280] Chr6:89932693 [GRCh38]
Chr6:90642412 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2334A>G (p.Gly778=) single nucleotide variant not provided [RCV002130127] Chr6:89932600 [GRCh38]
Chr6:90642319 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.455C>T (p.Pro152Leu) single nucleotide variant Immunodeficiency 60 [RCV002208761]|not provided [RCV003089104] Chr6:89951651 [GRCh38]
Chr6:90661370 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.264G>A (p.Gly88=) single nucleotide variant not provided [RCV002112316] Chr6:89951842 [GRCh38]
Chr6:90661561 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1440C>T (p.Tyr480=) single nucleotide variant not provided [RCV002072846] Chr6:89950666 [GRCh38]
Chr6:90660385 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1215C>T (p.Phe405=) single nucleotide variant not provided [RCV002191495] Chr6:89950891 [GRCh38]
Chr6:90660610 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.195G>T (p.Ala65=) single nucleotide variant not provided [RCV002112020] Chr6:90008650 [GRCh38]
Chr6:90718369 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2044-11C>T single nucleotide variant not provided [RCV002148798] Chr6:89932901 [GRCh38]
Chr6:90642620 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2043+8G>A single nucleotide variant not provided [RCV002208512] Chr6:89938136 [GRCh38]
Chr6:90647855 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1514A>G (p.Lys505Arg) single nucleotide variant not provided [RCV002115898] Chr6:89950592 [GRCh38]
Chr6:90660311 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.911C>T (p.Ala304Val) single nucleotide variant not provided [RCV002214404] Chr6:89951195 [GRCh38]
Chr6:90660914 [GRCh37]
Chr6:6q15		 likely benign|conflicting interpretations of pathogenicity
NM_021813.4(BACH2):c.2044-21_2044-20del microsatellite not provided [RCV002215413] Chr6:89932910..89932911 [GRCh38]
Chr6:90642629..90642630 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.852T>C (p.Asn284=) single nucleotide variant not provided [RCV002215382] Chr6:89951254 [GRCh38]
Chr6:90660973 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.138G>A (p.Lys46=) single nucleotide variant not provided [RCV002131470] Chr6:90008707 [GRCh38]
Chr6:90718426 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp) single nucleotide variant Immunodeficiency 60 [RCV002500396]|not provided [RCV002186073] Chr6:89932516 [GRCh38]
Chr6:90642235 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2403G>A (p.Pro801=) single nucleotide variant not provided [RCV002097024] Chr6:89932531 [GRCh38]
Chr6:90642250 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.399C>G (p.Leu133=) single nucleotide variant BACH2-related disorder [RCV003933691]|not provided [RCV002208616] Chr6:89951707 [GRCh38]
Chr6:90661426 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1992C>T (p.Arg664=) single nucleotide variant not provided [RCV002080818] Chr6:89938195 [GRCh38]
Chr6:90647914 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2331C>T (p.Pro777=) single nucleotide variant BACH2-related disorder [RCV003903514]|not provided [RCV002133186] Chr6:89932603 [GRCh38]
Chr6:90642322 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2331C>G (p.Pro777=) single nucleotide variant not provided [RCV002108512] Chr6:89932603 [GRCh38]
Chr6:90642322 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1503G>A (p.Pro501=) single nucleotide variant not provided [RCV002071841] Chr6:89950603 [GRCh38]
Chr6:90660322 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.997A>C (p.Arg333=) single nucleotide variant not provided [RCV002212264] Chr6:89951109 [GRCh38]
Chr6:90660828 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.444G>A (p.Ala148=) single nucleotide variant not provided [RCV002092580] Chr6:89951662 [GRCh38]
Chr6:90661381 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1785G>T (p.Ser595=) single nucleotide variant not provided [RCV002115282] Chr6:89950321 [GRCh38]
Chr6:90660040 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1584C>T (p.Tyr528=) single nucleotide variant not provided [RCV002084825] Chr6:89950522 [GRCh38]
Chr6:90660241 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1224G>T (p.Gly408=) single nucleotide variant not provided [RCV002077754] Chr6:89950882 [GRCh38]
Chr6:90660601 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2280C>T (p.Cys760=) single nucleotide variant not provided [RCV002112897] Chr6:89932654 [GRCh38]
Chr6:90642373 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1560C>G (p.Ser520=) single nucleotide variant not provided [RCV002116416] Chr6:89950546 [GRCh38]
Chr6:90660265 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.114C>T (p.Asp38=) single nucleotide variant not provided [RCV002150663] Chr6:90008731 [GRCh38]
Chr6:90718450 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.585C>T (p.Ala195=) single nucleotide variant not provided [RCV002193370] Chr6:89951521 [GRCh38]
Chr6:90661240 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.477T>C (p.Ser159=) single nucleotide variant not provided [RCV002077859] Chr6:89951629 [GRCh38]
Chr6:90661348 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2481T>A (p.Thr827=) single nucleotide variant not provided [RCV002151424] Chr6:89932453 [GRCh38]
Chr6:90642172 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1011G>A (p.Ser337=) single nucleotide variant not provided [RCV002197779] Chr6:89951095 [GRCh38]
Chr6:90660814 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1599C>T (p.Ser533=) single nucleotide variant not provided [RCV002103770] Chr6:89950507 [GRCh38]
Chr6:90660226 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2268G>A (p.Ala756=) single nucleotide variant not provided [RCV002156057] Chr6:89932666 [GRCh38]
Chr6:90642385 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1791G>T (p.Ser597=) single nucleotide variant not provided [RCV002159833] Chr6:89950315 [GRCh38]
Chr6:90660034 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.525G>A (p.Thr175=) single nucleotide variant not provided [RCV002175965] Chr6:89951581 [GRCh38]
Chr6:90661300 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2253T>G (p.Ala751=) single nucleotide variant not provided [RCV002099546] Chr6:89932681 [GRCh38]
Chr6:90642400 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1008C>G (p.Ala336=) single nucleotide variant not provided [RCV002101812] Chr6:89951098 [GRCh38]
Chr6:90660817 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1644G>A (p.Ser548=) single nucleotide variant not provided [RCV002143055] Chr6:89950462 [GRCh38]
Chr6:90660181 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.729T>C (p.Tyr243=) single nucleotide variant BACH2-related disorder [RCV003903537]|not provided [RCV002143366] Chr6:89951377 [GRCh38]
Chr6:90661096 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1755T>C (p.Tyr585=) single nucleotide variant not provided [RCV002157524] Chr6:89950351 [GRCh38]
Chr6:90660070 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.954T>C (p.Pro318=) single nucleotide variant not provided [RCV002137156] Chr6:89951152 [GRCh38]
Chr6:90660871 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1977G>A (p.Ala659=) single nucleotide variant not provided [RCV002101663] Chr6:89938210 [GRCh38]
Chr6:90647929 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.582C>T (p.Ala194=) single nucleotide variant not provided [RCV002117702] Chr6:89951524 [GRCh38]
Chr6:90661243 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.452G>C (p.Arg151Pro) single nucleotide variant BACH2-related disorder [RCV003950926]|not provided [RCV002202181] Chr6:89951654 [GRCh38]
Chr6:90661373 [GRCh37]
Chr6:6q15		 benign|likely benign
NM_021813.4(BACH2):c.1383G>A (p.Pro461=) single nucleotide variant not provided [RCV002181272] Chr6:89950723 [GRCh38]
Chr6:90660442 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1944T>C (p.His648=) single nucleotide variant not provided [RCV002154755] Chr6:89938243 [GRCh38]
Chr6:90647962 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.931C>A (p.Arg311=) single nucleotide variant not provided [RCV002203883] Chr6:89951175 [GRCh38]
Chr6:90660894 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1020C>T (p.Cys340=) single nucleotide variant not provided [RCV002122145] Chr6:89951086 [GRCh38]
Chr6:90660805 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1287G>A (p.Arg429=) single nucleotide variant not provided [RCV002178705] Chr6:89950819 [GRCh38]
Chr6:90660538 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2158C>A (p.Pro720Thr) single nucleotide variant not provided [RCV002179180] Chr6:89932776 [GRCh38]
Chr6:90642495 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1311T>C (p.Ala437=) single nucleotide variant not provided [RCV002103207] Chr6:89950795 [GRCh38]
Chr6:90660514 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1791G>A (p.Ser597=) single nucleotide variant BACH2-related disorder [RCV003968797]|not provided [RCV002216572] Chr6:89950315 [GRCh38]
Chr6:90660034 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1065C>A (p.Gly355=) single nucleotide variant not provided [RCV002177400] Chr6:89951041 [GRCh38]
Chr6:90660760 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2319C>T (p.Gly773=) single nucleotide variant not provided [RCV002119883] Chr6:89932615 [GRCh38]
Chr6:90642334 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2499C>T (p.Asp833=) single nucleotide variant not provided [RCV002203407] Chr6:89932435 [GRCh38]
Chr6:90642154 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV002181521] Chr6:89951776 [GRCh38]
Chr6:90661495 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.822G>A (p.Gln274=) single nucleotide variant not provided [RCV002219819] Chr6:89951284 [GRCh38]
Chr6:90661003 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2190C>T (p.Cys730=) single nucleotide variant not provided [RCV002163177] Chr6:89932744 [GRCh38]
Chr6:90642463 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2458G>A (p.Val820Met) single nucleotide variant not provided [RCV002219889] Chr6:89932476 [GRCh38]
Chr6:90642195 [GRCh37]
Chr6:6q15		 likely benign
NC_000006.11:g.(?_90642127)_(90648089_?)dup duplication not provided [RCV003109831] Chr6:90642127..90648089 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.796C>T (p.Leu266Phe) single nucleotide variant not provided [RCV003118404] Chr6:89951310 [GRCh38]
Chr6:90661029 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1430C>T (p.Ser477Leu) single nucleotide variant not provided [RCV003115572] Chr6:89950676 [GRCh38]
Chr6:90660395 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1204G>A (p.Val402Met) single nucleotide variant not provided [RCV003118764] Chr6:89950902 [GRCh38]
Chr6:90660621 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
NM_021813.4(BACH2):c.1806G>T (p.Glu602Asp) single nucleotide variant not provided [RCV002297338] Chr6:89950300 [GRCh38]
Chr6:90660019 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1474G>A (p.Gly492Arg) single nucleotide variant not provided [RCV002301086] Chr6:89950632 [GRCh38]
Chr6:90660351 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1643C>T (p.Ser548Leu) single nucleotide variant not provided [RCV002296636] Chr6:89950463 [GRCh38]
Chr6:90660182 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1429T>G (p.Ser477Ala) single nucleotide variant not provided [RCV002302230] Chr6:89950677 [GRCh38]
Chr6:90660396 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.875G>C (p.Cys292Ser) single nucleotide variant not provided [RCV002301359] Chr6:89951231 [GRCh38]
Chr6:90660950 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1018T>A (p.Cys340Ser) single nucleotide variant not provided [RCV003013788] Chr6:89951088 [GRCh38]
Chr6:90660807 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1095C>T (p.Ala365=) single nucleotide variant not provided [RCV003015944] Chr6:89951011 [GRCh38]
Chr6:90660730 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.61A>G (p.Thr21Ala) single nucleotide variant not provided [RCV002686054] Chr6:90008784 [GRCh38]
Chr6:90718503 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.446G>A (p.Cys149Tyr) single nucleotide variant not specified [RCV004086271] Chr6:89951660 [GRCh38]
Chr6:90661379 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2322G>A (p.Ala774=) single nucleotide variant not provided [RCV003095377] Chr6:89932612 [GRCh38]
Chr6:90642331 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1075A>G (p.Thr359Ala) single nucleotide variant not provided [RCV002819545] Chr6:89951031 [GRCh38]
Chr6:90660750 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1756G>A (p.Gly586Arg) single nucleotide variant not provided [RCV002842673] Chr6:89950350 [GRCh38]
Chr6:90660069 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2107T>C (p.Leu703=) single nucleotide variant not provided [RCV002947724] Chr6:89932827 [GRCh38]
Chr6:90642546 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.635T>C (p.Val212Ala) single nucleotide variant not provided [RCV002908114] Chr6:89951471 [GRCh38]
Chr6:90661190 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.254G>A (p.Arg85Lys) single nucleotide variant not provided [RCV002908305]|not specified [RCV004887700] Chr6:89951852 [GRCh38]
Chr6:90661571 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.587C>T (p.Ala196Val) single nucleotide variant not provided [RCV002751073] Chr6:89951519 [GRCh38]
Chr6:90661238 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1837-11C>T single nucleotide variant not provided [RCV002843565] Chr6:89938361 [GRCh38]
Chr6:90648080 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1945G>A (p.Asp649Asn) single nucleotide variant not provided [RCV002996872] Chr6:89938242 [GRCh38]
Chr6:90647961 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2222C>T (p.Ala741Val) single nucleotide variant not provided [RCV002730230] Chr6:89932712 [GRCh38]
Chr6:90642431 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1601G>A (p.Gly534Glu) single nucleotide variant not specified [RCV004119794] Chr6:89950505 [GRCh38]
Chr6:90660224 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1074T>A (p.Ser358Arg) single nucleotide variant not provided [RCV003016292] Chr6:89951032 [GRCh38]
Chr6:90660751 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2161G>A (p.Glu721Lys) single nucleotide variant not provided [RCV002750853] Chr6:89932773 [GRCh38]
Chr6:90642492 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1461C>G (p.Ala487=) single nucleotide variant not provided [RCV002863712] Chr6:89950645 [GRCh38]
Chr6:90660364 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.243+13G>T single nucleotide variant not provided [RCV003013510] Chr6:90008589 [GRCh38]
Chr6:90718308 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.469G>A (p.Glu157Lys) single nucleotide variant not provided [RCV002908253]|not specified [RCV004066085] Chr6:89951637 [GRCh38]
Chr6:90661356 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.1997G>A (p.Arg666Lys) single nucleotide variant not provided [RCV002819897] Chr6:89938190 [GRCh38]
Chr6:90647909 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1302C>T (p.Ser434=) single nucleotide variant not provided [RCV002613394] Chr6:89950804 [GRCh38]
Chr6:90660523 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2385A>G (p.Arg795=) single nucleotide variant not provided [RCV002996095] Chr6:89932549 [GRCh38]
Chr6:90642268 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2320G>A (p.Ala774Thr) single nucleotide variant not provided [RCV002953255] Chr6:89932614 [GRCh38]
Chr6:90642333 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1593C>T (p.Asp531=) single nucleotide variant not provided [RCV003081622] Chr6:89950513 [GRCh38]
Chr6:90660232 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1921T>G (p.Ser641Ala) single nucleotide variant not provided [RCV002662627] Chr6:89938266 [GRCh38]
Chr6:90647985 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2332G>A (p.Gly778Arg) single nucleotide variant not provided [RCV003079530]|not specified [RCV004071833] Chr6:89932602 [GRCh38]
Chr6:90642321 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1837-20T>C single nucleotide variant not provided [RCV002622800] Chr6:89938370 [GRCh38]
Chr6:90648089 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2335C>T (p.Pro779Ser) single nucleotide variant not provided [RCV002825202] Chr6:89932599 [GRCh38]
Chr6:90642318 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2520T>C (p.Tyr840=) single nucleotide variant not provided [RCV002846786] Chr6:89932414 [GRCh38]
Chr6:90642133 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1434G>A (p.Gln478=) single nucleotide variant not provided [RCV002795591] Chr6:89950672 [GRCh38]
Chr6:90660391 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2019T>C (p.Asn673=) single nucleotide variant not provided [RCV002740021] Chr6:89938168 [GRCh38]
Chr6:90647887 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1107C>T (p.Ala369=) single nucleotide variant not provided [RCV003053637] Chr6:89950999 [GRCh38]
Chr6:90660718 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.321C>G (p.Arg107=) single nucleotide variant not provided [RCV002639256] Chr6:89951785 [GRCh38]
Chr6:90661504 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.731A>G (p.Asn244Ser) single nucleotide variant not provided [RCV002638859] Chr6:89951375 [GRCh38]
Chr6:90661094 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.1002C>T (p.Ser334=) single nucleotide variant not provided [RCV002570135] Chr6:89951104 [GRCh38]
Chr6:90660823 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.888T>C (p.Asp296=) single nucleotide variant not provided [RCV003055098] Chr6:89951218 [GRCh38]
Chr6:90660937 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.393C>G (p.Thr131=) single nucleotide variant not provided [RCV002639255] Chr6:89951713 [GRCh38]
Chr6:90661432 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1154A>G (p.Tyr385Cys) single nucleotide variant not provided [RCV003079319] Chr6:89950952 [GRCh38]
Chr6:90660671 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.1025G>A (p.Arg342Lys) single nucleotide variant not provided [RCV002700126] Chr6:89951081 [GRCh38]
Chr6:90660800 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1134G>A (p.Gln378=) single nucleotide variant not provided [RCV002894488] Chr6:89950972 [GRCh38]
Chr6:90660691 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2306G>A (p.Cys769Tyr) single nucleotide variant not provided [RCV002957822] Chr6:89932628 [GRCh38]
Chr6:90642347 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1235G>A (p.Arg412Lys) single nucleotide variant not provided [RCV003043582] Chr6:89950871 [GRCh38]
Chr6:90660590 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1748A>G (p.Gln583Arg) single nucleotide variant not provided [RCV003025160] Chr6:89950358 [GRCh38]
Chr6:90660077 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2308T>C (p.Leu770=) single nucleotide variant not provided [RCV002805732] Chr6:89932626 [GRCh38]
Chr6:90642345 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1446C>T (p.His482=) single nucleotide variant not provided [RCV002625430] Chr6:89950660 [GRCh38]
Chr6:90660379 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.969A>G (p.Pro323=) single nucleotide variant not provided [RCV003040529] Chr6:89951137 [GRCh38]
Chr6:90660856 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1155C>T (p.Tyr385=) single nucleotide variant not provided [RCV003082673] Chr6:89950951 [GRCh38]
Chr6:90660670 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2392G>T (p.Gly798Cys) single nucleotide variant not provided [RCV002642232] Chr6:89932542 [GRCh38]
Chr6:90642261 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1857A>G (p.Val619=) single nucleotide variant not provided [RCV002595699] Chr6:89938330 [GRCh38]
Chr6:90648049 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.963G>A (p.Thr321=) single nucleotide variant not provided [RCV002625995] Chr6:89951143 [GRCh38]
Chr6:90660862 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.243+5A>G single nucleotide variant not provided [RCV002595035] Chr6:90008597 [GRCh38]
Chr6:90718316 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1935G>A (p.Glu645=) single nucleotide variant not provided [RCV002852078] Chr6:89938252 [GRCh38]
Chr6:90647971 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1525C>T (p.Arg509Cys) single nucleotide variant not provided [RCV002667843] Chr6:89950581 [GRCh38]
Chr6:90660300 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2321C>T (p.Ala774Val) single nucleotide variant not provided [RCV003082859] Chr6:89932613 [GRCh38]
Chr6:90642332 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.961A>C (p.Thr321Pro) single nucleotide variant not specified [RCV004231488] Chr6:89951145 [GRCh38]
Chr6:90660864 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1382C>T (p.Pro461Leu) single nucleotide variant not provided [RCV003085032]|not specified [RCV004073257] Chr6:89950724 [GRCh38]
Chr6:90660443 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.154C>A (p.Arg52=) single nucleotide variant not provided [RCV003024658] Chr6:90008691 [GRCh38]
Chr6:90718410 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.727T>C (p.Tyr243His) single nucleotide variant not provided [RCV003059444] Chr6:89951379 [GRCh38]
Chr6:90661098 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1411G>C (p.Gly471Arg) single nucleotide variant not provided [RCV002667296] Chr6:89950695 [GRCh38]
Chr6:90660414 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.24C>T (p.Asp8=) single nucleotide variant not provided [RCV003057620] Chr6:90008821 [GRCh38]
Chr6:90718540 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2182C>T (p.Arg728Trp) single nucleotide variant not provided [RCV002595794] Chr6:89932752 [GRCh38]
Chr6:90642471 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2469C>T (p.Cys823=) single nucleotide variant not provided [RCV003057717] Chr6:89932465 [GRCh38]
Chr6:90642184 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.818G>C (p.Gly273Ala) single nucleotide variant not provided [RCV003046225] Chr6:89951288 [GRCh38]
Chr6:90661007 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.524C>T (p.Thr175Met) single nucleotide variant not provided [RCV002651293] Chr6:89951582 [GRCh38]
Chr6:90661301 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1043C>T (p.Thr348Met) single nucleotide variant not provided [RCV002633107] Chr6:89951063 [GRCh38]
Chr6:90660782 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.482G>A (p.Gly161Glu) single nucleotide variant not provided [RCV002580197] Chr6:89951624 [GRCh38]
Chr6:90661343 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2339_2349del (p.Pro780fs) deletion not provided [RCV002721221] Chr6:89932585..89932595 [GRCh38]
Chr6:90642304..90642314 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2263A>C (p.Ile755Leu) single nucleotide variant not specified [RCV004135147] Chr6:89932671 [GRCh38]
Chr6:90642390 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2199C>G (p.Leu733=) single nucleotide variant not provided [RCV002938777] Chr6:89932735 [GRCh38]
Chr6:90642454 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.163C>T (p.Leu55=) single nucleotide variant not provided [RCV002581787] Chr6:90008682 [GRCh38]
Chr6:90718401 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1534C>A (p.Pro512Thr) single nucleotide variant Primary ciliary dyskinesia 3 [RCV003234804]|not provided [RCV002581703]|not specified [RCV004073357] Chr6:89950572 [GRCh38]
Chr6:90660291 [GRCh37]
Chr6:6q15		 pathogenic|uncertain significance
NM_021813.4(BACH2):c.2136A>G (p.Glu712=) single nucleotide variant not provided [RCV002834271] Chr6:89932798 [GRCh38]
Chr6:90642517 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.28C>T (p.Pro10Ser) single nucleotide variant not provided [RCV003046672] Chr6:90008817 [GRCh38]
Chr6:90718536 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2027G>A (p.Cys676Tyr) single nucleotide variant not provided [RCV002578194]|not specified [RCV004064528] Chr6:89938160 [GRCh38]
Chr6:90647879 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.350G>A (p.Arg117His) single nucleotide variant not provided [RCV002672139] Chr6:89951756 [GRCh38]
Chr6:90661475 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.838C>A (p.Pro280Thr) single nucleotide variant not provided [RCV002671631] Chr6:89951268 [GRCh38]
Chr6:90660987 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2048G>A (p.Cys683Tyr) single nucleotide variant not provided [RCV002715205] Chr6:89932886 [GRCh38]
Chr6:90642605 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.912G>A (p.Ala304=) single nucleotide variant not provided [RCV003087334] Chr6:89951194 [GRCh38]
Chr6:90660913 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.913G>A (p.Gly305Arg) single nucleotide variant not provided [RCV002938449] Chr6:89951193 [GRCh38]
Chr6:90660912 [GRCh37]
Chr6:6q15		 likely benign|uncertain significance
NM_021813.4(BACH2):c.1935G>T (p.Glu645Asp) single nucleotide variant not provided [RCV002647568] Chr6:89938252 [GRCh38]
Chr6:90647971 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2366A>C (p.Asn789Thr) single nucleotide variant not provided [RCV002628618]|not specified [RCV004070718] Chr6:89932568 [GRCh38]
Chr6:90642287 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.897C>T (p.Asp299=) single nucleotide variant not provided [RCV003086076] Chr6:89951209 [GRCh38]
Chr6:90660928 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1402G>T (p.Val468Leu) single nucleotide variant BACH2-related disorder [RCV003403927]|not provided [RCV002811784] Chr6:89950704 [GRCh38]
Chr6:90660423 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1219A>G (p.Met407Val) single nucleotide variant not provided [RCV002811208] Chr6:89950887 [GRCh38]
Chr6:90660606 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.625G>A (p.Glu209Lys) single nucleotide variant not provided [RCV002675993]|not specified [RCV004887697] Chr6:89951481 [GRCh38]
Chr6:90661200 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.946C>T (p.Pro316Ser) single nucleotide variant not provided [RCV002717174] Chr6:89951160 [GRCh38]
Chr6:90660879 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1837-5T>A single nucleotide variant not provided [RCV003029414] Chr6:89938355 [GRCh38]
Chr6:90648074 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1325G>A (p.Ser442Asn) single nucleotide variant not provided [RCV002604324] Chr6:89950781 [GRCh38]
Chr6:90660500 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2044-4C>T single nucleotide variant not provided [RCV003052035] Chr6:89932894 [GRCh38]
Chr6:90642613 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2340C>T (p.Pro780=) single nucleotide variant not provided [RCV002653849] Chr6:89932594 [GRCh38]
Chr6:90642313 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.320G>A (p.Arg107His) single nucleotide variant not provided [RCV002658314] Chr6:89951786 [GRCh38]
Chr6:90661505 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.418C>G (p.Leu140Val) single nucleotide variant not provided [RCV002944255] Chr6:89951688 [GRCh38]
Chr6:90661407 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.677C>T (p.Thr226Met) single nucleotide variant not provided [RCV002610240] Chr6:89951429 [GRCh38]
Chr6:90661148 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.922G>A (p.Glu308Lys) single nucleotide variant not provided [RCV002604228] Chr6:89951184 [GRCh38]
Chr6:90660903 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2044-7T>C single nucleotide variant not provided [RCV002613109] Chr6:89932897 [GRCh38]
Chr6:90642616 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1189G>C (p.Val397Leu) single nucleotide variant not provided [RCV002587885]|not specified [RCV004614363] Chr6:89950917 [GRCh38]
Chr6:90660636 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.979G>A (p.Ala327Thr) single nucleotide variant not provided [RCV002612359] Chr6:89951127 [GRCh38]
Chr6:90660846 [GRCh37]
Chr6:6q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_021813.4(BACH2):c.2458G>C (p.Val820Leu) single nucleotide variant not specified [RCV004131625] Chr6:89932476 [GRCh38]
Chr6:90642195 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2338C>T (p.Pro780Ser) single nucleotide variant not specified [RCV004280505] Chr6:89932596 [GRCh38]
Chr6:90642315 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.140A>C (p.Glu47Ala) single nucleotide variant not specified [RCV004327097] Chr6:90008705 [GRCh38]
Chr6:90718424 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1134G>C (p.Gln378His) single nucleotide variant Immunodeficiency 60 [RCV003142244]|not provided [RCV005099288] Chr6:89950972 [GRCh38]
Chr6:90660691 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.801G>T (p.Lys267Asn) single nucleotide variant Immunodeficiency 60 [RCV003142417] Chr6:89951305 [GRCh38]
Chr6:90661024 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1043C>A (p.Thr348Lys) single nucleotide variant not specified [RCV004270510] Chr6:89951063 [GRCh38]
Chr6:90660782 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2416G>C (p.Glu806Gln) single nucleotide variant Immunodeficiency 60 [RCV003448823] Chr6:89932518 [GRCh38]
Chr6:90642237 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.124A>G (p.Ile42Val) single nucleotide variant not provided [RCV003872633] Chr6:90008721 [GRCh38]
Chr6:90718440 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1427G>T (p.Ser476Ile) single nucleotide variant Immunodeficiency 60 [RCV003333825]|not provided [RCV003720850]|not specified [RCV004334120] Chr6:89950679 [GRCh38]
Chr6:90660398 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1354A>G (p.Ser452Gly) single nucleotide variant not specified [RCV004358116] Chr6:89950752 [GRCh38]
Chr6:90660471 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.870G>A (p.Thr290=) single nucleotide variant not provided [RCV003569450] Chr6:89951236 [GRCh38]
Chr6:90660955 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2326C>G (p.Pro776Ala) single nucleotide variant not provided [RCV003873036] Chr6:89932608 [GRCh38]
Chr6:90642327 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1394_1402del (p.Gly465_Trp467del) deletion not provided [RCV003543700] Chr6:89950704..89950712 [GRCh38]
Chr6:90660423..90660431 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1122G>A (p.Lys374=) single nucleotide variant not provided [RCV003875652] Chr6:89950984 [GRCh38]
Chr6:90660703 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1669C>A (p.Leu557Ile) single nucleotide variant not provided [RCV003571128] Chr6:89950437 [GRCh38]
Chr6:90660156 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2289G>A (p.Gly763=) single nucleotide variant not provided [RCV003712579] Chr6:89932645 [GRCh38]
Chr6:90642364 [GRCh37]
Chr6:6q15		 likely benign
GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1 copy number loss not provided [RCV003482926] Chr6:88018122..94565168 [GRCh37]
Chr6:6q15-16.1		 pathogenic
GRCh37/hg19 6q15(chr6:90774790-91298146)x3 copy number gain not provided [RCV003484644] Chr6:90774790..91298146 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.909A>G (p.Arg303=) single nucleotide variant not provided [RCV003431955] Chr6:89951197 [GRCh38]
Chr6:90660916 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1411G>A (p.Gly471Ser) single nucleotide variant BACH2-related disorder [RCV003399837]|not provided [RCV003778201] Chr6:89950695 [GRCh38]
Chr6:90660414 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1629T>C (p.Cys543=) single nucleotide variant not provided [RCV003428899] Chr6:89950477 [GRCh38]
Chr6:90660196 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.-13+50T>C single nucleotide variant not specified [RCV003489015] Chr6:90088911 [GRCh38]
Chr6:90798630 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.2043+104C>G single nucleotide variant not specified [RCV003391184] Chr6:89938040 [GRCh38]
Chr6:90647759 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1980C>T (p.Ala660=) single nucleotide variant not provided [RCV003428898] Chr6:89938207 [GRCh38]
Chr6:90647926 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.215A>C (p.Asn72Thr) single nucleotide variant not provided [RCV003431957] Chr6:90008630 [GRCh38]
Chr6:90718349 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.644A>C (p.Asp215Ala) single nucleotide variant not provided [RCV003431956] Chr6:89951462 [GRCh38]
Chr6:90661181 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.931C>T (p.Arg311Trp) single nucleotide variant BACH2-related disorder [RCV003414137]|not provided [RCV003778199] Chr6:89951175 [GRCh38]
Chr6:90660894 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.837G>A (p.Pro279=) single nucleotide variant not provided [RCV003828338] Chr6:89951269 [GRCh38]
Chr6:90660988 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.230G>C (p.Ser77Thr) single nucleotide variant not provided [RCV003829931]|not specified [RCV004366826] Chr6:90008615 [GRCh38]
Chr6:90718334 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.878T>G (p.Leu293Arg) single nucleotide variant not provided [RCV003716410] Chr6:89951228 [GRCh38]
Chr6:90660947 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2386C>G (p.Leu796Val) single nucleotide variant not provided [RCV003849191] Chr6:89932548 [GRCh38]
Chr6:90642267 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1785G>A (p.Ser595=) single nucleotide variant not provided [RCV003827907] Chr6:89950321 [GRCh38]
Chr6:90660040 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.746G>A (p.Ser249Asn) single nucleotide variant not provided [RCV003824502] Chr6:89951360 [GRCh38]
Chr6:90661079 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1578T>C (p.Tyr526=) single nucleotide variant not provided [RCV003572918] Chr6:89950528 [GRCh38]
Chr6:90660247 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV003879041] Chr6:89951428 [GRCh38]
Chr6:90661147 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1153T>G (p.Tyr385Asp) single nucleotide variant not provided [RCV003573033] Chr6:89950953 [GRCh38]
Chr6:90660672 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1530A>C (p.Ser510=) single nucleotide variant not provided [RCV003690951] Chr6:89950576 [GRCh38]
Chr6:90660295 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2411T>C (p.Phe804Ser) single nucleotide variant not provided [RCV003661409] Chr6:89932523 [GRCh38]
Chr6:90642242 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2505G>A (p.Gln835=) single nucleotide variant not provided [RCV003549109]|not specified [RCV003489589] Chr6:89932429 [GRCh38]
Chr6:90642148 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1371C>G (p.Asp457Glu) single nucleotide variant not provided [RCV003738723] Chr6:89950735 [GRCh38]
Chr6:90660454 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1170G>T (p.Gly390=) single nucleotide variant not provided [RCV003544661] Chr6:89950936 [GRCh38]
Chr6:90660655 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1059G>A (p.Leu353=) single nucleotide variant not provided [RCV003544692] Chr6:89951047 [GRCh38]
Chr6:90660766 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.-13+26030T>G single nucleotide variant not specified [RCV003489251] Chr6:90062931 [GRCh38]
Chr6:90772650 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.2191C>T (p.Pro731Ser) single nucleotide variant not provided [RCV003877939] Chr6:89932743 [GRCh38]
Chr6:90642462 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1352T>C (p.Val451Ala) single nucleotide variant not provided [RCV003545235] Chr6:89950754 [GRCh38]
Chr6:90660473 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.146G>C (p.Arg49Pro) single nucleotide variant not provided [RCV003543985] Chr6:90008699 [GRCh38]
Chr6:90718418 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1778C>A (p.Ser593Tyr) single nucleotide variant not provided [RCV003695243] Chr6:89950328 [GRCh38]
Chr6:90660047 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV003739740] Chr6:89951520 [GRCh38]
Chr6:90661239 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.240G>A (p.Glu80=) single nucleotide variant not provided [RCV003880454] Chr6:90008605 [GRCh38]
Chr6:90718324 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2511G>A (p.Arg837=) single nucleotide variant not provided [RCV003713580] Chr6:89932423 [GRCh38]
Chr6:90642142 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2323G>A (p.Ala775Thr) single nucleotide variant not provided [RCV003686652] Chr6:89932611 [GRCh38]
Chr6:90642330 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2424A>G (p.Gly808=) single nucleotide variant not provided [RCV003574581] Chr6:89932510 [GRCh38]
Chr6:90642229 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.309A>T (p.Arg103Ser) single nucleotide variant not provided [RCV003693022] Chr6:89951797 [GRCh38]
Chr6:90661516 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1815T>G (p.Pro605=) single nucleotide variant not provided [RCV003572624] Chr6:89950291 [GRCh38]
Chr6:90660010 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2039A>G (p.Lys680Arg) single nucleotide variant not provided [RCV003661669] Chr6:89938148 [GRCh38]
Chr6:90647867 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1726C>G (p.Arg576Gly) single nucleotide variant not provided [RCV003547828] Chr6:89950380 [GRCh38]
Chr6:90660099 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.595G>A (p.Val199Ile) single nucleotide variant not provided [RCV003882129] Chr6:89951511 [GRCh38]
Chr6:90661230 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1836+12A>C single nucleotide variant not provided [RCV003693728] Chr6:89950258 [GRCh38]
Chr6:90659977 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1948G>A (p.Val650Ile) single nucleotide variant not provided [RCV003693744] Chr6:89938239 [GRCh38]
Chr6:90647958 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.974G>A (p.Gly325Glu) single nucleotide variant not provided [RCV003545762] Chr6:89951132 [GRCh38]
Chr6:90660851 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1444C>T (p.His482Tyr) single nucleotide variant not provided [RCV003575598] Chr6:89950662 [GRCh38]
Chr6:90660381 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1206G>A (p.Val402=) single nucleotide variant not provided [RCV003826055] Chr6:89950900 [GRCh38]
Chr6:90660619 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2445C>T (p.Ser815=) single nucleotide variant not provided [RCV003545178] Chr6:89932489 [GRCh38]
Chr6:90642208 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2339C>T (p.Pro780Leu) single nucleotide variant not provided [RCV003824446] Chr6:89932595 [GRCh38]
Chr6:90642314 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2228G>C (p.Ser743Thr) single nucleotide variant not provided [RCV003878275] Chr6:89932706 [GRCh38]
Chr6:90642425 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2235C>T (p.Asn745=) single nucleotide variant not provided [RCV003835815] Chr6:89932699 [GRCh38]
Chr6:90642418 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1032G>C (p.Leu344=) single nucleotide variant not provided [RCV003697680] Chr6:89951074 [GRCh38]
Chr6:90660793 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.963G>T (p.Thr321=) single nucleotide variant not provided [RCV003672607] Chr6:89951143 [GRCh38]
Chr6:90660862 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1913A>G (p.Lys638Arg) single nucleotide variant not provided [RCV003839186] Chr6:89938274 [GRCh38]
Chr6:90647993 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1304C>T (p.Ser435Phe) single nucleotide variant not provided [RCV003697636] Chr6:89950802 [GRCh38]
Chr6:90660521 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.340G>C (p.Glu114Gln) single nucleotide variant not provided [RCV003561628] Chr6:89951766 [GRCh38]
Chr6:90661485 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1885G>A (p.Asp629Asn) single nucleotide variant not provided [RCV003815906] Chr6:89938302 [GRCh38]
Chr6:90648021 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.782A>G (p.Asn261Ser) single nucleotide variant not provided [RCV003838861] Chr6:89951324 [GRCh38]
Chr6:90661043 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1536C>T (p.Pro512=) single nucleotide variant not provided [RCV003671505] Chr6:89950570 [GRCh38]
Chr6:90660289 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.932G>A (p.Arg311Gln) single nucleotide variant not provided [RCV003559190]|not specified [RCV004604969] Chr6:89951174 [GRCh38]
Chr6:90660893 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1348G>T (p.Gly450Trp) single nucleotide variant not provided [RCV003836815] Chr6:89950758 [GRCh38]
Chr6:90660477 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2331dup (p.Gly778fs) duplication not provided [RCV003817550] Chr6:89932602..89932603 [GRCh38]
Chr6:90642321..90642322 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1021T>C (p.Leu341=) single nucleotide variant not provided [RCV003671081] Chr6:89951085 [GRCh38]
Chr6:90660804 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1375T>C (p.Ser459Pro) single nucleotide variant not provided [RCV003811738] Chr6:89950731 [GRCh38]
Chr6:90660450 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.959C>G (p.Pro320Arg) single nucleotide variant not provided [RCV003835750] Chr6:89951147 [GRCh38]
Chr6:90660866 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2175C>A (p.Ala725=) single nucleotide variant not provided [RCV003659282] Chr6:89932759 [GRCh38]
Chr6:90642478 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1560C>T (p.Ser520=) single nucleotide variant not provided [RCV003699790] Chr6:89950546 [GRCh38]
Chr6:90660265 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.584C>T (p.Ala195Val) single nucleotide variant not provided [RCV003671644] Chr6:89951522 [GRCh38]
Chr6:90661241 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.267G>A (p.Pro89=) single nucleotide variant not provided [RCV003842670] Chr6:89951839 [GRCh38]
Chr6:90661558 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.305G>A (p.Ser102Asn) single nucleotide variant not provided [RCV003845792] Chr6:89951801 [GRCh38]
Chr6:90661520 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.254G>C (p.Arg85Thr) single nucleotide variant not provided [RCV003732779] Chr6:89951852 [GRCh38]
Chr6:90661571 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.388C>A (p.Gln130Lys) single nucleotide variant not provided [RCV003857193] Chr6:89951718 [GRCh38]
Chr6:90661437 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.921C>T (p.Val307=) single nucleotide variant not provided [RCV003861825] Chr6:89951185 [GRCh38]
Chr6:90660904 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.773G>A (p.Arg258Gln) single nucleotide variant not provided [RCV003819927]|not specified [RCV004366749] Chr6:89951333 [GRCh38]
Chr6:90661052 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.943A>G (p.Ser315Gly) single nucleotide variant not provided [RCV003677899] Chr6:89951163 [GRCh38]
Chr6:90660882 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1227G>A (p.Ser409=) single nucleotide variant not provided [RCV003858838] Chr6:89950879 [GRCh38]
Chr6:90660598 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2337C>A (p.Pro779=) single nucleotide variant not provided [RCV003704483] Chr6:89932597 [GRCh38]
Chr6:90642316 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.408T>C (p.Ser136=) single nucleotide variant not provided [RCV003852971] Chr6:89951698 [GRCh38]
Chr6:90661417 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1970G>T (p.Arg657Leu) single nucleotide variant not provided [RCV003542025] Chr6:89938217 [GRCh38]
Chr6:90647936 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1848T>C (p.Pro616=) single nucleotide variant not provided [RCV003728144] Chr6:89938339 [GRCh38]
Chr6:90648058 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.530A>G (p.Lys177Arg) single nucleotide variant not provided [RCV003729483] Chr6:89951576 [GRCh38]
Chr6:90661295 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1105G>C (p.Ala369Pro) single nucleotide variant not provided [RCV003680704] Chr6:89951001 [GRCh38]
Chr6:90660720 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1732C>A (p.Gln578Lys) single nucleotide variant not provided [RCV003712170] Chr6:89950374 [GRCh38]
Chr6:90660093 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.914G>A (p.Gly305Glu) single nucleotide variant not provided [RCV003856986] Chr6:89951192 [GRCh38]
Chr6:90660911 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.979G>C (p.Ala327Pro) single nucleotide variant not provided [RCV003711013] Chr6:89951127 [GRCh38]
Chr6:90660846 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1427G>A (p.Ser476Asn) single nucleotide variant not provided [RCV003861060] Chr6:89950679 [GRCh38]
Chr6:90660398 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2522C>G (p.Thr841Ser) single nucleotide variant not provided [RCV003737192] Chr6:89932412 [GRCh38]
Chr6:90642131 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.835C>A (p.Pro279Thr) single nucleotide variant not provided [RCV003685280] Chr6:89951271 [GRCh38]
Chr6:90660990 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.803C>T (p.Pro268Leu) single nucleotide variant not provided [RCV003737482] Chr6:89951303 [GRCh38]
Chr6:90661022 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.590T>A (p.Ile197Asn) single nucleotide variant not provided [RCV003866886] Chr6:89951516 [GRCh38]
Chr6:90661235 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.856G>A (p.Glu286Lys) single nucleotide variant not provided [RCV003869385] Chr6:89951250 [GRCh38]
Chr6:90660969 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1308C>T (p.Ser436=) single nucleotide variant not provided [RCV003841015] Chr6:89950798 [GRCh38]
Chr6:90660517 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.736TCA[1] (p.Ser247del) microsatellite not provided [RCV003566949] Chr6:89951365..89951367 [GRCh38]
Chr6:90661084..90661086 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.372C>T (p.Ser124=) single nucleotide variant not provided [RCV003721340] Chr6:89951734 [GRCh38]
Chr6:90661453 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1994A>G (p.Lys665Arg) single nucleotide variant not provided [RCV003711419] Chr6:89938193 [GRCh38]
Chr6:90647912 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.498A>G (p.Glu166=) single nucleotide variant not provided [RCV003557348] Chr6:89951608 [GRCh38]
Chr6:90661327 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1259G>C (p.Cys420Ser) single nucleotide variant not provided [RCV003869874] Chr6:89950847 [GRCh38]
Chr6:90660566 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2301C>G (p.Pro767=) single nucleotide variant not provided [RCV003682552] Chr6:89932633 [GRCh38]
Chr6:90642352 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.621G>T (p.Leu207=) single nucleotide variant not provided [RCV003853234] Chr6:89951485 [GRCh38]
Chr6:90661204 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2144G>A (p.Arg715Gln) single nucleotide variant not provided [RCV003720487] Chr6:89932790 [GRCh38]
Chr6:90642509 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90131062-90675512)x3 copy number gain not specified [RCV003986672] Chr6:90131062..90675512 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.171A>G (p.Ala57=) single nucleotide variant not provided [RCV003862195] Chr6:90008674 [GRCh38]
Chr6:90718393 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.781A>G (p.Asn261Asp) single nucleotide variant not provided [RCV003843136] Chr6:89951325 [GRCh38]
Chr6:90661044 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1294A>G (p.Ile432Val) single nucleotide variant not provided [RCV003705318]|not specified [RCV004887734] Chr6:89950812 [GRCh38]
Chr6:90660531 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.631G>A (p.Asp211Asn) single nucleotide variant not provided [RCV003563608] Chr6:89951475 [GRCh38]
Chr6:90661194 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1420C>G (p.Leu474Val) single nucleotide variant not provided [RCV003846940] Chr6:89950686 [GRCh38]
Chr6:90660405 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.594C>T (p.Pro198=) single nucleotide variant not provided [RCV003843712] Chr6:89951512 [GRCh38]
Chr6:90661231 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1499G>T (p.Cys500Phe) single nucleotide variant not provided [RCV003680265] Chr6:89950607 [GRCh38]
Chr6:90660326 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2043+11C>T single nucleotide variant not provided [RCV003843800] Chr6:89938133 [GRCh38]
Chr6:90647852 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.742C>G (p.His248Asp) single nucleotide variant not specified [RCV004423703] Chr6:89951364 [GRCh38]
Chr6:90661083 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.589A>G (p.Ile197Val) single nucleotide variant BACH2-related disorder [RCV003907281] Chr6:89951517 [GRCh38]
Chr6:90661236 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1481T>C (p.Met494Thr) single nucleotide variant not specified [RCV004423701] Chr6:89950625 [GRCh38]
Chr6:90660344 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.*10T>A single nucleotide variant BACH2-related disorder [RCV003937364] Chr6:89932398 [GRCh38]
Chr6:90642117 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.*7G>A single nucleotide variant BACH2-related disorder [RCV003924273] Chr6:89932401 [GRCh38]
Chr6:90642120 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.969A>C (p.Pro323=) single nucleotide variant BACH2-related disorder [RCV003913840] Chr6:89951137 [GRCh38]
Chr6:90660856 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1009T>C (p.Ser337Pro) single nucleotide variant BACH2-related disorder [RCV003901523] Chr6:89951097 [GRCh38]
Chr6:90660816 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1649G>T (p.Cys550Phe) single nucleotide variant Immunodeficiency 60 [RCV004566608] Chr6:89950457 [GRCh38]
Chr6:90660176 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1760C>A (p.Thr587Asn) single nucleotide variant not specified [RCV004606925] Chr6:89950346 [GRCh38]
Chr6:90660065 [GRCh37]
Chr6:6q15		 uncertain significance
NC_000006.11:g.(?_90518279)_(91296602_?)del deletion not provided [RCV004578882] Chr6:90518279..91296602 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1475G>T (p.Gly492Val) single nucleotide variant not provided [RCV005059603]|not specified [RCV004603739] Chr6:89950631 [GRCh38]
Chr6:90660350 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1512C>G (p.Ile504Met) single nucleotide variant not specified [RCV004603718] Chr6:89950594 [GRCh38]
Chr6:90660313 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.655A>G (p.Ser219Gly) single nucleotide variant not specified [RCV004886107] Chr6:89951451 [GRCh38]
Chr6:90661170 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1015T>C (p.Ser339Pro) single nucleotide variant not specified [RCV004886081] Chr6:89951091 [GRCh38]
Chr6:90660810 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.83A>G (p.Asn28Ser) single nucleotide variant not specified [RCV004886097] Chr6:90008762 [GRCh38]
Chr6:90718481 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.536C>T (p.Ala179Val) single nucleotide variant not specified [RCV004886128] Chr6:89951570 [GRCh38]
Chr6:90661289 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.534G>T (p.Met178Ile) single nucleotide variant not specified [RCV004886117] Chr6:89951572 [GRCh38]
Chr6:90661291 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.56A>T (p.His19Leu) single nucleotide variant not specified [RCV004886090] Chr6:90008789 [GRCh38]
Chr6:90718508 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90813117-91709556)x3 copy number gain not provided [RCV004819507] Chr6:90813117..91709556 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1431G>T (p.Ser477=) single nucleotide variant not provided [RCV005147873] Chr6:89950675 [GRCh38]
Chr6:90660394 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.748A>C (p.Thr250Pro) single nucleotide variant not provided [RCV005175489] Chr6:89951358 [GRCh38]
Chr6:90661077 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.444G>T (p.Ala148=) single nucleotide variant not provided [RCV005170373] Chr6:89951662 [GRCh38]
Chr6:90661381 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1227G>T (p.Ser409=) single nucleotide variant not provided [RCV005173947] Chr6:89950879 [GRCh38]
Chr6:90660598 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1313G>A (p.Cys438Tyr) single nucleotide variant not provided [RCV005178098] Chr6:89950793 [GRCh38]
Chr6:90660512 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.244-20T>C single nucleotide variant not provided [RCV005130587] Chr6:89951882 [GRCh38]
Chr6:90661601 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV005132852] Chr6:89951791 [GRCh38]
Chr6:90661510 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2066T>G (p.Leu689Trp) single nucleotide variant not provided [RCV005117130] Chr6:89932868 [GRCh38]
Chr6:90642587 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.113A>G (p.Asp38Gly) single nucleotide variant not provided [RCV005122201] Chr6:90008732 [GRCh38]
Chr6:90718451 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1582T>A (p.Tyr528Asn) single nucleotide variant not provided [RCV005127080] Chr6:89950524 [GRCh38]
Chr6:90660243 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.346C>T (p.Leu116=) single nucleotide variant not provided [RCV005156156] Chr6:89951760 [GRCh38]
Chr6:90661479 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1286G>A (p.Arg429Lys) single nucleotide variant not provided [RCV005121038] Chr6:89950820 [GRCh38]
Chr6:90660539 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1531C>T (p.Pro511Ser) single nucleotide variant not provided [RCV005160360] Chr6:89950575 [GRCh38]
Chr6:90660294 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.644A>G (p.Asp215Gly) single nucleotide variant not provided [RCV005178233] Chr6:89951462 [GRCh38]
Chr6:90661181 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2125C>G (p.Leu709Val) single nucleotide variant not provided [RCV005151493] Chr6:89932809 [GRCh38]
Chr6:90642528 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2339C>G (p.Pro780Arg) single nucleotide variant not provided [RCV005192846] Chr6:89932595 [GRCh38]
Chr6:90642314 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2257C>G (p.Gln753Glu) single nucleotide variant not provided [RCV005159081] Chr6:89932677 [GRCh38]
Chr6:90642396 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.708T>A (p.Leu236=) single nucleotide variant not provided [RCV005203344] Chr6:89951398 [GRCh38]
Chr6:90661117 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1744G>A (p.Glu582Lys) single nucleotide variant not provided [RCV005074807] Chr6:89950362 [GRCh38]
Chr6:90660081 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1268A>T (p.Glu423Val) single nucleotide variant not provided [RCV005185455] Chr6:89950838 [GRCh38]
Chr6:90660557 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.36T>C (p.Tyr12=) single nucleotide variant not provided [RCV005074107] Chr6:90008809 [GRCh38]
Chr6:90718528 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2212T>C (p.Leu738=) single nucleotide variant not provided [RCV005116390] Chr6:89932722 [GRCh38]
Chr6:90642441 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1442C>A (p.Ser481Tyr) single nucleotide variant not provided [RCV005131479] Chr6:89950664 [GRCh38]
Chr6:90660383 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2082A>G (p.Gln694=) single nucleotide variant not provided [RCV005081543] Chr6:89932852 [GRCh38]
Chr6:90642571 [GRCh37]
Chr6:6q15		 benign
NM_021813.4(BACH2):c.1283G>A (p.Arg428Gln) single nucleotide variant not provided [RCV005077707] Chr6:89950823 [GRCh38]
Chr6:90660542 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.650A>C (p.Lys217Thr) single nucleotide variant not provided [RCV005168705] Chr6:89951456 [GRCh38]
Chr6:90661175 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2485A>T (p.Lys829Ter) single nucleotide variant not provided [RCV005149390] Chr6:89932449 [GRCh38]
Chr6:90642168 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.342G>A (p.Glu114=) single nucleotide variant not provided [RCV005144299] Chr6:89951764 [GRCh38]
Chr6:90661483 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1706A>G (p.Asp569Gly) single nucleotide variant not provided [RCV005137004] Chr6:89950400 [GRCh38]
Chr6:90660119 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2184G>A (p.Arg728=) single nucleotide variant not provided [RCV005167183] Chr6:89932750 [GRCh38]
Chr6:90642469 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1417T>C (p.Ser473Pro) single nucleotide variant not provided [RCV005169374] Chr6:89950689 [GRCh38]
Chr6:90660408 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.681G>A (p.Gln227=) single nucleotide variant not provided [RCV005162525] Chr6:89951425 [GRCh38]
Chr6:90661144 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2417A>G (p.Glu806Gly) single nucleotide variant not provided [RCV005076752] Chr6:89932517 [GRCh38]
Chr6:90642236 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.319C>T (p.Arg107Cys) single nucleotide variant not provided [RCV005166822] Chr6:89951787 [GRCh38]
Chr6:90661506 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.10G>T (p.Asp4Tyr) single nucleotide variant not provided [RCV005132036] Chr6:90008835 [GRCh38]
Chr6:90718554 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.958C>T (p.Pro320Ser) single nucleotide variant not provided [RCV005186316] Chr6:89951148 [GRCh38]
Chr6:90660867 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.41A>G (p.Tyr14Cys) single nucleotide variant not provided [RCV005119929] Chr6:90008804 [GRCh38]
Chr6:90718523 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1188C>T (p.His396=) single nucleotide variant not provided [RCV005136806] Chr6:89950918 [GRCh38]
Chr6:90660637 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.828A>T (p.Lys276Asn) single nucleotide variant not provided [RCV005160282] Chr6:89951278 [GRCh38]
Chr6:90660997 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.669C>T (p.Asp223=) single nucleotide variant not provided [RCV005160901] Chr6:89951437 [GRCh38]
Chr6:90661156 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.492G>T (p.Glu164Asp) single nucleotide variant not provided [RCV005137929] Chr6:89951614 [GRCh38]
Chr6:90661333 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2186A>G (p.Tyr729Cys) single nucleotide variant not provided [RCV005139925] Chr6:89932748 [GRCh38]
Chr6:90642467 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1124G>A (p.Gly375Glu) single nucleotide variant not provided [RCV005166553] Chr6:89950982 [GRCh38]
Chr6:90660701 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1920C>T (p.Thr640=) single nucleotide variant not provided [RCV005162957] Chr6:89938267 [GRCh38]
Chr6:90647986 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2379GAG[1] (p.Arg795del) microsatellite not provided [RCV005164823] Chr6:89932550..89932552 [GRCh38]
Chr6:90642269..90642271 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2256G>A (p.Glu752=) single nucleotide variant not provided [RCV005135586] Chr6:89932678 [GRCh38]
Chr6:90642397 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.609A>G (p.Glu203=) single nucleotide variant not provided [RCV005188817] Chr6:89951497 [GRCh38]
Chr6:90661216 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.995C>A (p.Ser332Tyr) single nucleotide variant not provided [RCV005164882] Chr6:89951111 [GRCh38]
Chr6:90660830 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.376T>C (p.Phe126Leu) single nucleotide variant not provided [RCV005140988] Chr6:89951730 [GRCh38]
Chr6:90661449 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2352C>G (p.Ser784Arg) single nucleotide variant not provided [RCV005073383] Chr6:89932582 [GRCh38]
Chr6:90642301 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2275C>A (p.Gln759Lys) single nucleotide variant not provided [RCV005082740] Chr6:89932659 [GRCh38]
Chr6:90642378 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2424A>C (p.Gly808=) single nucleotide variant not provided [RCV005158814] Chr6:89932510 [GRCh38]
Chr6:90642229 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1699A>G (p.Met567Val) single nucleotide variant not provided [RCV005084247] Chr6:89950407 [GRCh38]
Chr6:90660126 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.443C>T (p.Ala148Val) single nucleotide variant Immunodeficiency 60 [RCV005415692]|not provided [RCV005140312] Chr6:89951663 [GRCh38]
Chr6:90661382 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.225G>A (p.Val75=) single nucleotide variant not provided [RCV005164308] Chr6:90008620 [GRCh38]
Chr6:90718339 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.671C>T (p.Ala224Val) single nucleotide variant not provided [RCV005083911] Chr6:89951435 [GRCh38]
Chr6:90661154 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1545C>A (p.Thr515=) single nucleotide variant not provided [RCV005126141] Chr6:89950561 [GRCh38]
Chr6:90660280 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2054A>G (p.Lys685Arg) single nucleotide variant not provided [RCV005130571] Chr6:89932880 [GRCh38]
Chr6:90642599 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2408C>T (p.Thr803Ile) single nucleotide variant not provided [RCV005071571] Chr6:89932526 [GRCh38]
Chr6:90642245 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1638C>T (p.Ser546=) single nucleotide variant not provided [RCV005183688] Chr6:89950468 [GRCh38]
Chr6:90660187 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1157C>T (p.Thr386Ile) single nucleotide variant not provided [RCV005068841] Chr6:89950949 [GRCh38]
Chr6:90660668 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.983G>C (p.Cys328Ser) single nucleotide variant not provided [RCV005069771] Chr6:89951123 [GRCh38]
Chr6:90660842 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1336C>T (p.His446Tyr) single nucleotide variant not provided [RCV005129736] Chr6:89950770 [GRCh38]
Chr6:90660489 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.2445C>A (p.Ser815Arg) single nucleotide variant not provided [RCV005074326] Chr6:89932489 [GRCh38]
Chr6:90642208 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1431G>A (p.Ser477=) single nucleotide variant not provided [RCV005074414] Chr6:89950675 [GRCh38]
Chr6:90660394 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1080T>C (p.Ser360=) single nucleotide variant not provided [RCV005202539] Chr6:89951026 [GRCh38]
Chr6:90660745 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.2393G>A (p.Gly798Asp) single nucleotide variant not provided [RCV005178327] Chr6:89932541 [GRCh38]
Chr6:90642260 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.253A>C (p.Arg85=) single nucleotide variant not provided [RCV005200251] Chr6:89951853 [GRCh38]
Chr6:90661572 [GRCh37]
Chr6:6q15		 likely benign
NM_021813.4(BACH2):c.1510A>G (p.Ile504Val) single nucleotide variant not provided [RCV005075114] Chr6:89950596 [GRCh38]
Chr6:90660315 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1542G>C (p.Glu514Asp) single nucleotide variant not provided [RCV005071930] Chr6:89950564 [GRCh38]
Chr6:90660283 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1454T>C (p.Leu485Pro) single nucleotide variant not specified [RCV005302413] Chr6:89950652 [GRCh38]
Chr6:90660371 [GRCh37]
Chr6:6q15		 uncertain significance
NM_021813.4(BACH2):c.1001G>A (p.Ser334Asn) single nucleotide variant Immunodeficiency 60 [RCV005415952] Chr6:89951105 [GRCh38]
Chr6:90660824 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:90953959-91284990)x4 copy number gain not provided [RCV005429177] Chr6:90953959..91284990 [GRCh37]
Chr6:6q15		 not provided
NM_021813.4(BACH2):c.946C>A (p.Pro316Thr) single nucleotide variant not provided [RCV005084440] Chr6:89951160 [GRCh38]
Chr6:90660879 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q15(chr6:89339079-92096042)x3 copy number gain See cases [RCV000142031] Chr6:89339079..92096042 [GRCh38]
Chr6:90048798..92805760 [GRCh37]
Chr6:90105517..92862481 [NCBI36]
Chr6:6q15		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7385
Count of miRNA genes:1320
Interacting mature miRNAs:1693
Transcripts:ENST00000257749, ENST00000343122, ENST00000406998, ENST00000453877, ENST00000470301, ENST00000472023, ENST00000481150, ENST00000493201, ENST00000494747, ENST00000537989
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
628533622GWAS2441851_Hphosphoglycerides measurement QTL GWAS2441851 (human)7e-10blood phospholipid amount (VT:0006084)69025761890257619Human
597208987GWAS1305061_Hblood protein measurement QTL GWAS1305061 (human)2e-13blood protein measurement69026704990267050Human
407280706GWAS929682_Htype 1 diabetes mellitus QTL GWAS929682 (human)2e-09type 1 diabetes mellitus69015515190155152Human
407366722GWAS1015698_Hlymphocyte count QTL GWAS1015698 (human)4e-14lymphocyte count69026704990267050Human
597208991GWAS1305065_Hblood protein measurement QTL GWAS1305065 (human)3e-10blood protein measurement69025923090259231Human
407300174GWAS949150_Hasthma, age at onset QTL GWAS949150 (human)0.0000003asthma, age at onset69027547990275480Human
407006280GWAS655256_Hlymphocyte count QTL GWAS655256 (human)4e-41lymphocyte count69026704990267050Human
407392324GWAS1041300_Hurate measurement, bone density QTL GWAS1041300 (human)7e-11urate measurement, bone density69002819790028198Human
628494714GWAS2402943_HInhalant adrenergic use measurement QTL GWAS2402943 (human)1e-18Inhalant adrenergic use measurement69029650890296509Human
628444536GWAS2352765_Hasthma QTL GWAS2352765 (human)2e-25asthma69027160090271601Human
628436325GWAS2344554_Hasthma QTL GWAS2344554 (human)1e-12asthma69027684090276841Human
407128149GWAS777125_Htype 1 diabetes mellitus QTL GWAS777125 (human)5e-12type 1 diabetes mellitus69024851290248513Human
628607334GWAS2515563_Hskin neoplasm QTL GWAS2515563 (human)3e-11skin neoplasm69029602490296025Human
597162885GWAS1258959_Hchildhood onset asthma QTL GWAS1258959 (human)1e-20childhood onset asthma69025389590253896Human
597090178GWAS1186252_Hmonocyte percentage of leukocytes QTL GWAS1186252 (human)5e-31monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)69022566490225665Human
628464992GWAS2373221_Hblood protein amount QTL GWAS2373221 (human)8e-16blood protein amount69014253990142540Human
628994411GWAS2902640_Hcigarettes per day measurement QTL GWAS2902640 (human)4e-11cigarettes per day measurement69014309490143095Human
407214163GWAS863139_Hchildhood onset asthma QTL GWAS863139 (human)1e-20childhood onset asthma69025389590253896Human
628962667GWAS2870896_Hhypothyroidism QTL GWAS2870896 (human)1e-26hypothyroidism69027940690279407Human
626446657GWAS2260590_Heosinophil count QTL GWAS2260590 (human)5e-52eosinophil count69024878390248784Human
597607302GWAS1664162_Hskin neoplasm QTL GWAS1664162 (human)1e-29skin neoplasm69029602490296025Human
598147007GWAS1833735_Hurate measurement, bone tissue density QTL GWAS1833735 (human)7e-11urate measurement, bone tissue density69002819790028198Human
628442478GWAS2350707_Hlymphocyte count QTL GWAS2350707 (human)2e-37lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
406911068GWAS560044_Hbody height QTL GWAS560044 (human)0.000004body height69014101190141012Human
407006306GWAS655282_Hlymphocyte count QTL GWAS655282 (human)2e-37lymphocyte count69026704990267050Human
597580734GWAS1637594_Hlymphocyte count QTL GWAS1637594 (human)3e-15lymphocyte count69026704990267050Human
597050293GWAS1146367_HEczematoid dermatitis QTL GWAS1146367 (human)1e-18Eczematoid dermatitis69024878390248784Human
626445680GWAS2259613_Heosinophil count QTL GWAS2259613 (human)4e-79eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407183458GWAS832434_HGraves disease QTL GWAS832434 (human)7e-09Graves disease69027940690279407Human
628464988GWAS2373217_Hblood protein amount QTL GWAS2373217 (human)1e-12blood protein amount69014044590140446Human
406964333GWAS613309_Hneutrophil percentage of granulocytes QTL GWAS613309 (human)5e-20neutrophil quantity (VT:0000222)69023511290235113Human
628440408GWAS2348637_Hchildhood onset asthma QTL GWAS2348637 (human)5e-09childhood onset asthma69011916390119164Human
628445531GWAS2353760_Hasthma, Eczematoid dermatitis, allergic rhinitis QTL GWAS2353760 (human)8e-23asthma, Eczematoid dermatitis, allergic rhinitis69024878390248784Human
597188534GWAS1284608_Hsmoking initiation QTL GWAS1284608 (human)4e-12smoking initiation69026805190268052Human
406910063GWAS559039_HGraves disease QTL GWAS559039 (human)0.000004Graves disease69026704990267050Human
406910064GWAS559040_Hautoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease QTL GWAS559040 (human)0.0000001autoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease69026704990267050Human
597146534GWAS1242608_HCOVID-19 QTL GWAS1242608 (human)3e-09COVID-1969011916390119164Human
597614508GWAS1671368_Hcigarettes per day measurement QTL GWAS1671368 (human)4e-11cigarettes per day measurement69014309490143095Human
407060593GWAS709569_HNasal Cavity Polyp QTL GWAS709569 (human)8e-08Nasal Cavity Polyp69024669090246691Human
597607340GWAS1664200_Hcutaneous melanoma QTL GWAS1664200 (human)1e-19cutaneous melanoma69026704990267050Human
597270442GWAS1366516_Hrheumatoid arthritis, type 1 diabetes mellitus QTL GWAS1366516 (human)4e-10rheumatoid arthritis, type 1 diabetes mellitus69024774490247745Human
628958537GWAS2866766_Hmonocyte count QTL GWAS2866766 (human)6e-31monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)69017710590177106Human
626445678GWAS2259611_Heosinophil count QTL GWAS2259611 (human)5e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69002855890028559Human
407204989GWAS853965_Hblood protein measurement QTL GWAS853965 (human)1e-12blood protein measurement69014044590140446Human
597208992GWAS1305066_Hblood protein measurement QTL GWAS1305066 (human)5e-67blood protein measurement69026704990267050Human
626445679GWAS2259612_Heosinophil count QTL GWAS2259612 (human)2e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69012954590129546Human
596979628GWAS1099147_Hhypothyroidism QTL GWAS1099147 (human)8e-41hypothyroidism69017067490170675Human
597208994GWAS1305068_Hblood protein measurement QTL GWAS1305068 (human)9e-12autoimmune disease69026704990267050Human
616506501GWAS1903084_Hblood protein amount QTL GWAS1903084 (human)2e-55blood protein amount69026704990267050Human
597586853GWAS1643713_Heosinophil count QTL GWAS1643713 (human)3e-47eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
597053357GWAS1149431_Hasthma QTL GWAS1149431 (human)2e-25asthma69027160090271601Human
596976558GWAS1096077_HCrohn's disease QTL GWAS1096077 (human)2e-09Crohn's disease69027431690274317Human
407173240GWAS822216_Hlymphocyte count QTL GWAS822216 (human)4e-22lymphocyte count69026704990267050Human
597208998GWAS1305072_Hblood protein measurement QTL GWAS1305072 (human)2e-55blood protein measurement69026704990267050Human
407016449GWAS665425_Hmultiple sclerosis QTL GWAS665425 (human)2e-15multiple sclerosis69026704990267050Human
597344223GWAS1440297_Hatopic eczema QTL GWAS1440297 (human)2e-44atopic eczema69022079490220795Human
597226462GWAS1322536_Hasthma, age at onset QTL GWAS1322536 (human)0.0000003asthma, age at onset69027547990275480Human
628854076GWAS2762305_HCOVID-19 QTL GWAS2762305 (human)3e-09COVID-1969011916390119164Human
406963206GWAS612182_Hhypothyroidism QTL GWAS612182 (human)0.0000002hypothyroidism69026628090266281Human
628662576GWAS2570805_Hatopic eczema QTL GWAS2570805 (human)2e-44atopic eczema69022079490220795Human
616543479GWAS1940062_Hprogranulin measurement QTL GWAS1940062 (human)3e-14progranulin measurement69023157090231571Human
406977545GWAS626521_Heosinophil percentage of granulocytes QTL GWAS626521 (human)2e-19eosinophil quantity (VT:0002602)69024669090246691Human
628995383GWAS2903612_Hmean corpuscular hemoglobin concentration QTL GWAS2903612 (human)4e-36erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)69024669090246691Human
597620693GWAS1677553_Hleukocyte count QTL GWAS1677553 (human)1e-15leukocyte count69027696790276968Human
616377585GWAS1857827_Hobsolete_blood protein measurement QTL GWAS1857827 (human)2e-55obsolete_blood protein measurement69026704990267050Human
628993331GWAS2901560_Hlymphocyte count QTL GWAS2901560 (human)2e-27lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
628959538GWAS2867767_Herythrocyte volume QTL GWAS2867767 (human)6e-16erythrocyte volume69024669090246691Human
616377586GWAS1857828_Hobsolete_blood protein measurement QTL GWAS1857828 (human)3e-10obsolete_blood protein measurement69025923090259231Human
407051281GWAS700257_HGraves disease QTL GWAS700257 (human)0.000002Graves disease69021202190212022Human
407074839GWAS723815_Hcesarean section, intelligence QTL GWAS723815 (human)0.000007cesarean section, intelligence69001513690015137Human
628892971GWAS2801200_Hschizophrenia QTL GWAS2801200 (human)0.000003schizophrenia69019308990193090Human
626441486GWAS2255419_Heosinophil count QTL GWAS2255419 (human)1e-88eosinophil count69024669090246691Human
616541414GWAS1937997_Hreceptor-type tyrosine-protein kinase flt3 measurement QTL GWAS1937997 (human)3e-23receptor-type tyrosine-protein kinase flt3 measurement69026866490268665Human
597607361GWAS1664221_Hsquamous cell carcinoma QTL GWAS1664221 (human)4e-18squamous cell carcinoma69026704990267050Human
628456746GWAS2364975_Hasthma QTL GWAS2364975 (human)6e-11asthma69029161390291614Human
628457748GWAS2365977_Hblood protein amount QTL GWAS2365977 (human)9e-12autoimmune disease69026704990267050Human
628957471GWAS2865700_Hneutrophil count QTL GWAS2865700 (human)4e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69026627190266272Human
597087221GWAS1183295_Hmean corpuscular hemoglobin QTL GWAS1183295 (human)3e-26erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)69027779390277794Human
628457744GWAS2365973_Hblood protein amount QTL GWAS2365973 (human)5e-67blood protein amount69026704990267050Human
628415761GWAS2323990_Hcutaneous melanoma QTL GWAS2323990 (human)4e-09cutaneous melanoma69029602490296025Human
628660511GWAS2568740_Heosinophil measurement QTL GWAS2568740 (human)2e-09eosinophil morphology trait (VT:0005061)69024152090241521Human
597614580GWAS1671440_Hskin disease QTL GWAS1671440 (human)9e-13skin disease69023814890238149Human
407000105GWAS649081_Hmultiple sclerosis QTL GWAS649081 (human)8e-29multiple sclerosis69026704990267050Human
597597173GWAS1654033_Hlymphocyte count QTL GWAS1654033 (human)2e-27lymphocyte count69026704990267050Human
597332977GWAS1429051_HR-6-hydroxywarfarin measurement QTL GWAS1429051 (human)0.000002R-6-hydroxywarfarin measurement69029277590292776Human
628457752GWAS2365981_Hblood protein amount QTL GWAS2365981 (human)2e-55blood protein amount69026704990267050Human
628445467GWAS2353696_HEczematoid dermatitis, allergic rhinitis QTL GWAS2353696 (human)5e-18Eczematoid dermatitis, allergic rhinitis69024878390248784Human
628957458GWAS2865687_Hmonocyte count QTL GWAS2865687 (human)3e-22monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)69017710590177106Human
597335018GWAS1431092_Hasthma QTL GWAS1431092 (human)5e-23asthma69027684090276841Human
597585903GWAS1642763_Hbasal cell carcinoma QTL GWAS1642763 (human)1e-24basal cell carcinoma69029602490296025Human
597048291GWAS1144365_Hautoimmune disease QTL GWAS1144365 (human)5e-23autoimmune disease69026704990267050Human
616387787GWAS1868029_Hobsolete_fatty acid measurement QTL GWAS1868029 (human)2e-10obsolete_fatty acid measurement69025761890257619Human
628531457GWAS2439686_Hmean corpuscular hemoglobin QTL GWAS2439686 (human)7e-15erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)69025115690251157Human
616507591GWAS1904174_Hblood protein amount QTL GWAS1904174 (human)8e-16blood protein amount69014253990142540Human
598000606GWAS1719905_Hurate measurement, bone density QTL GWAS1719905 (human)7e-11urate measurement, bone density69002819790028198Human
597089261GWAS1185335_Hmean reticulocyte volume QTL GWAS1185335 (human)8e-41reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)69023837490238375Human
616507587GWAS1904170_Hblood protein amount QTL GWAS1904170 (human)1e-12blood protein amount69014044590140446Human
628425992GWAS2334221_Hatopic asthma QTL GWAS2334221 (human)2e-20atopic asthma69028705090287051Human
598074330GWAS1793629_Hbone density QTL GWAS1793629 (human)1e-300bone density69010260990102610Human
628422132GWAS2330361_Hbasophil count QTL GWAS2330361 (human)2e-11basophil quantity (VT:0002607)blood basophil count (CMO:0000034)69009863390098634Human
628486644GWAS2394873_Hasthma QTL GWAS2394873 (human)9e-13asthma69027696790276968Human
597046036GWAS1142110_Hatopic asthma QTL GWAS1142110 (human)2e-20atopic asthma69028705090287051Human
597988128GWAS1707427_Hobsolete_thyroid peroxidase antibody measurement QTL GWAS1707427 (human)4e-08obsolete_thyroid peroxidase antibody measurement69017067490170675Human
598158115GWAS1837185_Hatopic eczema QTL GWAS1837185 (human)3e-13atopic eczema69027547990275480Human
597592858GWAS1649718_Hplatelet count QTL GWAS1649718 (human)5e-25platelet count69027815390278154Human
628661758GWAS2569987_HFEV/FVC ratio QTL GWAS2569987 (human)2e-11lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)69029650890296509Human
407102664GWAS751640_Hleukocyte count QTL GWAS751640 (human)9e-24leukocyte count69022566490225665Human
406933708GWAS582684_Hbasophil count QTL GWAS582684 (human)2e-11basophil count69009863390098634Human
407037135GWAS686111_Hfatty acid measurement QTL GWAS686111 (human)2e-10fatty acid measurement69025761890257619Human
616546347GWAS1942930_HC-type lectin domain family 4 member K amount QTL GWAS1942930 (human)3e-71C-type lectin domain family 4 member K amount69022213990222140Human
597585675GWAS1642535_Heosinophil count QTL GWAS1642535 (human)2e-32eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025747890257479Human
407129297GWAS778273_Hmultiple sclerosis QTL GWAS778273 (human)4e-08multiple sclerosis69028705090287051Human
628996581GWAS2904810_Hskin disease QTL GWAS2904810 (human)9e-13skin disease69023814890238149Human
597213954GWAS1310028_Hblood protein measurement QTL GWAS1310028 (human)2e-26blood protein measurement69026704990267050Human
407028959GWAS677935_Hsystemic lupus erythematosus QTL GWAS677935 (human)5e-13systemic lupus erythematosus69017067490170675Human
407323866GWAS972842_Hblood protein measurement QTL GWAS972842 (human)9e-12autoimmune disease69026704990267050Human
617203799GWAS2184239_Hglioma pathogenesis-related protein 1 measurement QTL GWAS2184239 (human)2e-24glioma pathogenesis-related protein 1 measurement69002617590026176Human
628605416GWAS2513645_Hasthma QTL GWAS2513645 (human)9e-24asthma69025389590253896Human
597163784GWAS1259858_Hskin neoplasm QTL GWAS1259858 (human)3e-11skin neoplasm69029602490296025Human
597594943GWAS1651803_Heosinophil count QTL GWAS1651803 (human)2e-12eosinophil count69025830690258307Human
598014726GWAS1734025_Hred blood cell density QTL GWAS1734025 (human)2e-24red blood cell density69029650890296509Human
407152865GWAS801841_Hallergic rhinitis QTL GWAS801841 (human)2e-18allergic rhinitis69029650890296509Human
628823517GWAS2731746_Htotal blood protein measurement QTL GWAS2731746 (human)3e-34blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)69019308990193090Human
407080164GWAS729140_Hinterleukin-6 measurement QTL GWAS729140 (human)0.000005interleukin-6 measurement69004563390045634Human
407246049GWAS895025_Heosinophil count QTL GWAS895025 (human)1e-43eosinophil count69024669090246691Human
628968918GWAS2877147_Hthyroid disease, drug use measurement QTL GWAS2877147 (human)5e-23thyroid disease, drug use measurement69028033190280332Human
628776406GWAS2684635_Hurate measurement, bone tissue density QTL GWAS2684635 (human)7e-11urate measurement, bone tissue densityblood uric acid level (CMO:0000501)69002819790028198Human
407323881GWAS972857_Hblood protein measurement QTL GWAS972857 (human)2e-55blood protein measurement69026704990267050Human
597583662GWAS1640522_Hmean corpuscular hemoglobin concentration QTL GWAS1640522 (human)7e-17mean corpuscular hemoglobin concentration69027696790276968Human
407052529GWAS701505_Heosinophil count QTL GWAS701505 (human)1e-88eosinophil count69024669090246691Human
597203756GWAS1299830_Hasthma QTL GWAS1299830 (human)6e-11asthma69029161390291614Human
407186672GWAS835648_Hhypothyroidism QTL GWAS835648 (human)2e-24basal cell carcinoma69029602490296025Human
597595944GWAS1652804_Hthyroid disease, drug use measurement QTL GWAS1652804 (human)5e-23thyroid disease, drug use measurement69028033190280332Human
628966858GWAS2875087_Hhypothyroidism QTL GWAS2875087 (human)1e-26hypothyroidism69024101790241018Human
628818368GWAS2726597_Heosinophil percentage of leukocytes QTL GWAS2726597 (human)6e-69eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)69024669090246691Human
628991425GWAS2899654_Hleukocyte quantity QTL GWAS2899654 (human)3e-14leukocyte quantity69027696790276968Human
628459979GWAS2368208_Hadult onset asthma QTL GWAS2368208 (human)3e-14adult onset asthma69027547990275480Human
597170983GWAS1267057_Hfatty acid measurement QTL GWAS1267057 (human)2e-10fatty acid measurement69025761890257619Human
598028058GWAS1747357_Hleukocyte quantity QTL GWAS1747357 (human)3e-14leukocyte quantity69027696790276968Human
616506494GWAS1903077_Hblood protein amount QTL GWAS1903077 (human)5e-67blood protein amount69026704990267050Human
616506493GWAS1903076_Hblood protein amount QTL GWAS1903076 (human)3e-10blood protein amount69025923090259231Human
407204993GWAS853969_Hblood protein measurement QTL GWAS853969 (human)8e-16blood protein measurement69014253990142540Human
407258243GWAS907219_Hasthma QTL GWAS907219 (human)5e-27asthma69022079490220795Human
628811196GWAS2719425_Hhypothyroidism QTL GWAS2719425 (human)8e-41hypothyroidism69017067490170675Human
616506489GWAS1903072_Hblood protein amount QTL GWAS1903072 (human)2e-13blood protein amount69026704990267050Human
597590864GWAS1647724_Hhypothyroidism QTL GWAS1647724 (human)1e-26hypothyroidism69024101790241018Human
628981165GWAS2889394_Hbasal cell carcinoma QTL GWAS2889394 (human)1e-17basal cell carcinoma69026704990267050Human
628364711GWAS2285555_Hplatelet-derived growth factor complex BB dimer (human) level QTL GWAS2285555 (human)0.000007platelet-derived growth factor complex BB dimer (human) level68998552789985528Human
597079877GWAS1175951_Hred blood cell density measurement QTL GWAS1175951 (human)2e-24red blood cell density measurement69029650890296509Human
617205789GWAS2186229_Hlevel of serine protease inhibitor Kazal-type 2 in blood QTL GWAS2186229 (human)5e-21level of serine protease inhibitor Kazal-type 2 in blood69023709090237091Human
616520810GWAS1917393_Hlymphocyte count QTL GWAS1917393 (human)4e-34lymphocyte count69026704990267050Human
407313553GWAS962529_Heosinophil count QTL GWAS962529 (human)5e-52eosinophil count69024878390248784Human
616516713GWAS1913296_Hmean reticulocyte volume QTL GWAS1913296 (human)2e-34mean reticulocyte volume69029650890296509Human
597191489GWAS1287563_Hsystemic lupus erythematosus QTL GWAS1287563 (human)4e-11systemic lupus erythematosus69024774490247745Human
616569886GWAS1966469_Hlevel of glioma pathogenesis-related protein 1 in blood serum QTL GWAS1966469 (human)2e-24level of glioma pathogenesis-related protein 1 in blood serum69002617590026176Human
406915233GWAS564209_Hsystemic lupus erythematosus QTL GWAS564209 (human)8e-09systemic lupus erythematosus69000944590009446Human
597610367GWAS1667227_Hleukocyte count QTL GWAS1667227 (human)6e-29leukocyte count69027696790276968Human
597109621GWAS1205695_Hcentral nervous system non-hodgkin lymphoma QTL GWAS1205695 (human)0.0000001central nervous system non-hodgkin lymphoma69021689390216894Human
406915234GWAS564210_Hsystemic lupus erythematosus QTL GWAS564210 (human)5e-11systemic lupus erythematosus69029277590292776Human
628683164GWAS2591393_Hbasal cell carcinoma QTL GWAS2591393 (human)4e-24basal cell carcinoma69029602490296025Human
628782492GWAS2690721_Hnon-melanoma skin carcinoma QTL GWAS2690721 (human)3e-13non-melanoma skin carcinoma69026704990267050Human
597596021GWAS1652881_Hthyroid disease QTL GWAS1652881 (human)1e-22thyroid disease69027940690279407Human
407228585GWAS877561_Hallergic disease QTL GWAS877561 (human)2e-17allergic disease69027779390277794Human
406913201GWAS562177_Hceliac disease QTL GWAS562177 (human)0.0000003celiac disease69009992090099921Human
628423044GWAS2331273_Hadult onset asthma QTL GWAS2331273 (human)2e-15adult onset asthma69027663490276635Human
597271400GWAS1367474_Hschizophrenia QTL GWAS1367474 (human)0.000003schizophrenia69019308990193090Human
407036080GWAS685056_Hphosphoglycerides measurement QTL GWAS685056 (human)7e-10phosphoglycerides measurement 69025761890257619Human
628675978GWAS2584207_Htype 1 diabetes mellitus QTL GWAS2584207 (human)4e-15type 1 diabetes mellitus69027940690279407Human
616382537GWAS1862779_Hobsolete_blood protein measurement QTL GWAS1862779 (human)5e-67obsolete_blood protein measurement69026704990267050Human
597162850GWAS1258924_HNasal Cavity Polyp QTL GWAS1258924 (human)1e-17Nasal Cavity Polyp69024627690246277Human
597082976GWAS1179050_Hlymphocyte percentage of leukocytes QTL GWAS1179050 (human)2e-10lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)69029602490296025Human
597109600GWAS1205674_HGlucocorticoid use measurement QTL GWAS1205674 (human)1e-13Glucocorticoid use measurement69029650890296509Human
407368895GWAS1017871_Hbasal cell carcinoma QTL GWAS1017871 (human)3e-17basal cell carcinoma69026704990267050Human
616382533GWAS1862775_Hobsolete_blood protein measurement QTL GWAS1862775 (human)2e-13obsolete_blood protein measurement69026704990267050Human
597081967GWAS1178041_Hautoimmune thyroid disease QTL GWAS1178041 (human)6e-42autoimmune thyroid disease69028033190280332Human
628440460GWAS2348689_Hchildhood onset asthma QTL GWAS2348689 (human)5e-15childhood onset asthma69029602490296025Human
628640130GWAS2548359_Hgut microbiome measurement, breastfeeding duration QTL GWAS2548359 (human)3e-08lactation duration (VT:1000653)69001339390013394Human
406897851GWAS546827_Hthyroid peroxidase antibody measurement QTL GWAS546827 (human)0.000001thyroid peroxidase antibody measurement69024851290248513Human
597310305GWAS1406379_HThyroid preparation use measurement QTL GWAS1406379 (human)9e-41Thyroid preparation use measurement69027940690279407Human
597607266GWAS1664126_Hskin cancer QTL GWAS1664126 (human)1e-30skin cancer69026704990267050Human
597096087GWAS1192161_Hsystemic lupus erythematosus QTL GWAS1192161 (human)8e-09systemic lupus erythematosus69000944590009446Human
407159109GWAS808085_HS-7-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS808085 (human)4e-08S-7-hydroxywarfarin to S-warfarin ratio measurement69028860390288604Human
628655227GWAS2563456_Hsystemic lupus erythematosus QTL GWAS2563456 (human)5e-13systemic lupus erythematosus69017067490170675Human
597212827GWAS1308901_Htype 2 diabetes mellitus QTL GWAS1308901 (human)1e-11type 2 diabetes mellitus69026704990267050Human
598054561GWAS1773860_Herythrocyte volume QTL GWAS1773860 (human)1e-18erythrocyte volume69027696790276968Human
616551866GWAS1948449_Htotal blood protein measurement QTL GWAS1948449 (human)3e-34total blood protein measurement69019308990193090Human
597590683GWAS1647543_Hhypothyroidism QTL GWAS1647543 (human)1e-26hypothyroidism69027940690279407Human
628846717GWAS2754946_Hbasal cell carcinoma QTL GWAS2754946 (human)3e-65basal cell carcinoma69026704990267050Human
628958330GWAS2866559_Hmean corpuscular hemoglobin concentration QTL GWAS2866559 (human)3e-15erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)69024627690246277Human
407008581GWAS657557_Hbasal cell carcinoma QTL GWAS657557 (human)4e-24basal cell carcinoma69029602490296025Human
597212816GWAS1308890_Hceliac disease QTL GWAS1308890 (human)0.0000004celiac disease69026704990267050Human
597611156GWAS1668016_Hneutrophil count QTL GWAS1668016 (human)4e-11neutrophil count69026627190266272Human
596979358GWAS1098877_Hhyperthyroidism QTL GWAS1098877 (human)2e-08hyperthyroidism69029602490296025Human
597825198GWAS1692589_Hurate measurement QTL GWAS1692589 (human)7e-11urate measurement69002819790028198Human
407381316GWAS1030292_Hrheumatoid arthritis QTL GWAS1030292 (human)1e-08rheumatoid arthritis69026704990267050Human
597304983GWAS1401057_Htotal blood protein measurement QTL GWAS1401057 (human)7e-27total blood protein measurement69015515190155152Human
597616275GWAS1673135_Herythrocyte count QTL GWAS1673135 (human)3e-18erythrocyte count69027779390277794Human
407017804GWAS666780_Hcentral nervous system non-hodgkin lymphoma QTL GWAS666780 (human)0.0000001central nervous system non-hodgkin lymphoma69021689390216894Human
597128857GWAS1224931_Hmean corpuscular volume QTL GWAS1224931 (human)5e-16mean corpuscular volume69027779390277794Human
597096088GWAS1192162_Hsystemic lupus erythematosus QTL GWAS1192162 (human)5e-11systemic lupus erythematosus69029277590292776Human
628658280GWAS2566509_Hlymphocyte amount QTL GWAS2566509 (human)6e-12lymphocyte amount69029602490296025Human
616521133GWAS1917716_Heosinophil percentage of leukocytes QTL GWAS1917716 (human)6e-69eosinophil percentage of leukocytes69024669090246691Human
406927701GWAS576677_Hinflammatory bowel disease QTL GWAS576677 (human)2e-09inflammatory bowel disease69026344090263441Human
617290195GWAS2226971_HCleft palate, cleft lip QTL GWAS2226971 (human)3e-08Cleft palate, cleft lip69015113790151138Human
597600903GWAS1657763_Hmetabolite measurement QTL GWAS1657763 (human)0.000008metabolite measurement68996893389968934Human
407386450GWAS1035426_Hsquamous cell carcinoma QTL GWAS1035426 (human)2e-33squamous cell carcinoma69026704990267050Human
597607045GWAS1663905_Hbasal cell carcinoma QTL GWAS1663905 (human)1e-17basal cell carcinoma69026704990267050Human
597619328GWAS1676188_Hleukocyte count QTL GWAS1676188 (human)3e-14leukocyte count69027696790276968Human
628983896GWAS2892125_Heosinophil count QTL GWAS2892125 (human)2e-76eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
597279420GWAS1375494_Hhyperthyroidism QTL GWAS1375494 (human)2e-08hyperthyroidism69029602490296025Human
616550809GWAS1947392_Hhypothyroidism QTL GWAS1947392 (human)4e-37hypothyroidism69028033190280332Human
597141168GWAS1237242_HCOVID-19 QTL GWAS1237242 (human)7e-10COVID-1969012010090120101Human
407263585GWAS912561_HInhalant adrenergic use measurement QTL GWAS912561 (human)1e-18Inhalant adrenergic use measurement69029650890296509Human
628496478GWAS2404707_Hceliac disease QTL GWAS2404707 (human)0.0000004intestine integrity trait (VT:0010554)69026704990267050Human
407154029GWAS803005_Hcutaneous melanoma QTL GWAS803005 (human)4e-09cutaneous melanoma69029602490296025Human
407005544GWAS654520_Hneutrophil count QTL GWAS654520 (human)5e-12neutrophil count69023676090236761Human
407121262GWAS770238_Hrheumatoid arthritis, celiac disease QTL GWAS770238 (human)4e-11intestine integrity trait (VT:0010554)69026704990267050Human
597256882GWAS1352956_Hresponse to cisplatin QTL GWAS1352956 (human)0.0000007response to cisplatin69002518990025190Human
628485214GWAS2393443_Hmultiple sclerosis QTL GWAS2393443 (human)2e-15lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
597256885GWAS1352959_Hresponse to cisplatin QTL GWAS1352959 (human)4e-08response to cisplatin69002518990025190Human
628498522GWAS2406751_Hasthma QTL GWAS2406751 (human)1e-28asthma69026689090266891Human
407301482GWAS950458_Hasthma QTL GWAS950458 (human)7e-29asthma69027547990275480Human
628498523GWAS2406752_Hasthma QTL GWAS2406752 (human)7e-29asthma69027547990275480Human
597052088GWAS1148162_Heosinophil count QTL GWAS1148162 (human)1e-88eosinophil count69024669090246691Human
407301481GWAS950457_Hasthma QTL GWAS950457 (human)1e-28asthma69026689090266891Human
628779082GWAS2687311_Herythrocyte volume QTL GWAS2687311 (human)5e-16erythrocyte volume69027779390277794Human
597211817GWAS1307891_Hblood protein measurement QTL GWAS1307891 (human)8e-16blood protein measurement69014253990142540Human
597072551GWAS1168625_Hmultiple sclerosis QTL GWAS1168625 (human)2e-15multiple sclerosis69026704990267050Human
597233320GWAS1329394_Hbasal cell carcinoma QTL GWAS1329394 (human)3e-17basal cell carcinoma69026704990267050Human
616500622GWAS1897205_Hlevel of protein ZNRD2 in blood QTL GWAS1897205 (human)4e-14level of protein ZNRD2 in blood69027266890272669Human
406938995GWAS587971_Hreaction time measurement QTL GWAS587971 (human)0.000003reaction time measurement69011200890112009Human
628959311GWAS2867540_Hmean corpuscular hemoglobin concentration QTL GWAS2867540 (human)3e-16erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)69027696790276968Human
597279402GWAS1375476_Hrheumatoid arthritis QTL GWAS1375476 (human)1e-08rheumatoid arthritis69026704990267050Human
597093025GWAS1189099_Hinflammatory bowel disease QTL GWAS1189099 (human)7e-10intestine integrity trait (VT:0010554)69026344090263441Human
628422733GWAS2330962_Hbasophil count QTL GWAS2330962 (human)2e-10basophil quantity (VT:0002607)blood basophil count (CMO:0000034)69029650890296509Human
407164286GWAS813262_Heosinophil measurement QTL GWAS813262 (human)2e-09eosinophil measurement69024152090241521Human
407126392GWAS775368_Htype 1 diabetes mellitus QTL GWAS775368 (human)0.000001type 1 diabetes mellitus69024774490247745Human
597211813GWAS1307887_Hblood protein measurement QTL GWAS1307887 (human)1e-12blood protein measurement69014044590140446Human
407321978GWAS970954_Hblood protein measurement QTL GWAS970954 (human)2e-13blood protein measurement69026704990267050Human
407321977GWAS970953_Hblood protein measurement QTL GWAS970953 (human)2e-26blood protein measurement69026704990267050Human
616536575GWAS1933158_Herythrocyte volume QTL GWAS1933158 (human)2e-25erythrocyte volume69022566490225665Human
407017734GWAS666710_HThyroid preparation use measurement QTL GWAS666710 (human)1e-39Thyroid preparation use measurement69027940690279407Human
628493362GWAS2401591_HThyroid preparation use measurement QTL GWAS2401591 (human)1e-39Thyroid preparation use measurement69027940690279407Human
628958266GWAS2866495_Hmonocyte count QTL GWAS2866495 (human)3e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)69019308990193090Human
597612249GWAS1669109_Hmean corpuscular volume QTL GWAS1669109 (human)2e-34mean corpuscular volume69024669090246691Human
406888713GWAS537689_HBMI-adjusted hip circumference QTL GWAS537689 (human)0.000002BMI-adjusted hip circumference69019044590190446Human
597205714GWAS1301788_HGenetic chronic primary adrenal insufficiency QTL GWAS1301788 (human)3e-27Genetic chronic primary adrenal insufficiency69021689390216894Human
407162127GWAS811103_Hinflammatory bowel disease QTL GWAS811103 (human)2e-10intestine integrity trait (VT:0010554)69026344090263441Human
407006478GWAS655454_Hneutrophil count QTL GWAS655454 (human)3e-13neutrophil count69023676090236761Human
616493554GWAS1890137_Hfatty acid amount QTL GWAS1890137 (human)2e-10fatty acid amount69025761890257619Human
407167242GWAS816218_Heosinophil measurement QTL GWAS816218 (human)9e-11eosinophil measurement69015650890156509Human
597287639GWAS1383713_Hsaturated fatty acids measurement QTL GWAS1383713 (human)5e-10saturated fatty acids measurement 69025761890257619Human
597581520GWAS1638380_Hskin cancer QTL GWAS1638380 (human)5e-25skin cancer69026704990267050Human
628486202GWAS2394431_Hasthma QTL GWAS2394431 (human)2e-12asthma69027696790276968Human
597190345GWAS1286419_Hsystemic lupus erythematosus QTL GWAS1286419 (human)5e-13systemic lupus erythematosus69017067490170675Human
597289672GWAS1385746_HCrohn's disease QTL GWAS1385746 (human)2e-09Crohn's disease69027431690274317Human
628935720GWAS2843949_Hskin neoplasm QTL GWAS2843949 (human)2e-16skin neoplasm69026704990267050Human
628988970GWAS2897199_Hasthma QTL GWAS2897199 (human)2e-11asthma69027815390278154Human
628425762GWAS2333991_Hallergic rhinitis QTL GWAS2333991 (human)2e-18allergic rhinitis69029650890296509Human
628809762GWAS2717991_Herythrocyte volume QTL GWAS2717991 (human)2e-25erythrocyte volume69022566490225665Human
407027992GWAS676968_HVitiligo QTL GWAS676968 (human)3e-08Vitiligo69024774490247745Human
597610181GWAS1667041_Hmonocyte count QTL GWAS1667041 (human)6e-31monocyte count69017710590177106Human
616357345GWAS1842060_Hgut microbiome measurement, breastfeeding duration QTL GWAS1842060 (human)5e-08gut microbiome measurement, breastfeeding duration69007563290075633Human
628810788GWAS2719017_Hmonocyte percentage of leukocytes QTL GWAS2719017 (human)2e-29monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)69022566490225665Human
406916382GWAS565358_Hasthma QTL GWAS565358 (human)5e-23asthma69027684090276841Human
628993058GWAS2901287_Herythrocyte count QTL GWAS2901287 (human)1e-13erythrocyte countred blood cell count (CMO:0000025)69027779390277794Human
597582591GWAS1639451_Hskin neoplasm QTL GWAS1639451 (human)5e-47skin neoplasm69026704990267050Human
597584636GWAS1641496_Hmean corpuscular hemoglobin concentration QTL GWAS1641496 (human)3e-15mean corpuscular hemoglobin concentration69024627690246277Human
616381919GWAS1862161_Hobsolete_blood protein measurement QTL GWAS1862161 (human)2e-26obsolete_blood protein measurement69026704990267050Human
628814872GWAS2723101_Hmean reticulocyte volume QTL GWAS2723101 (human)2e-34reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)69029650890296509Human
406908196GWAS557172_Hankylosing spondylitis QTL GWAS557172 (human)5e-08ankylosing spondylitis68995605489956055Human
406969637GWAS618613_Heosinophil percentage of leukocytes QTL GWAS618613 (human)2e-20eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)69024669090246691Human
597275390GWAS1371464_Heducational attainment QTL GWAS1371464 (human)0.000002educational attainment69009729890097299Human
597345008GWAS1441082_Hlymphocyte measurement QTL GWAS1441082 (human)3e-14lymphocyte measurement69026704990267050Human
597053180GWAS1149254_Hasthma QTL GWAS1149254 (human)1e-12asthma69027684090276841Human
628459545GWAS2367774_Hbasal cell carcinoma QTL GWAS2367774 (human)3e-17basal cell carcinoma69026704990267050Human
628680725GWAS2588954_Hasthma QTL GWAS2588954 (human)1e-38asthma69023875790238758Human
628607002GWAS2515231_HNasal Cavity Polyp QTL GWAS2515231 (human)1e-17Nasal Cavity Polyp69024627690246277Human
628958224GWAS2866453_Herythrocyte volume QTL GWAS2866453 (human)1e-18erythrocyte volume69027696790276968Human
628990988GWAS2899217_Herythrocyte volume QTL GWAS2899217 (human)8e-29erythrocyte volume69024669090246691Human
628621324GWAS2529553_Hautoimmune disease QTL GWAS2529553 (human)5e-23autoimmune disease69026704990267050Human
407257394GWAS906370_Hinflammatory bowel disease QTL GWAS906370 (human)3e-10inflammatory bowel disease69027431690274317Human
628725772GWAS2634001_Hlevel of protein ZNRD2 in blood QTL GWAS2634001 (human)4e-14level of protein ZNRD2 in blood69027266890272669Human
597596905GWAS1653765_Heosinophil count QTL GWAS1653765 (human)2e-76eosinophil count69025830690258307Human
628995077GWAS2903306_Hactinic keratosis QTL GWAS2903306 (human)8e-15actinic keratosis69024152090241521Human
597170915GWAS1266989_HC-C motif chemokine 22 measurement QTL GWAS1266989 (human)1e-13C-C motif chemokine 22 measurement69025115690251157Human
628979718GWAS2887947_Hskin neoplasm QTL GWAS2887947 (human)1e-29skin neoplasm69029602490296025Human
628738055GWAS2646284_Heosinophil count QTL GWAS2646284 (human)1e-43eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407235012GWAS883988_Hbone density QTL GWAS883988 (human)1e-300bone density69010260990102610Human
406954435GWAS603411_HC-C motif chemokine 22 measurement QTL GWAS603411 (human)1e-13C-C motif chemokine 22 measurement69025115690251157Human
628968702GWAS2876931_Hplatelet count QTL GWAS2876931 (human)4e-30platelet quantity (VT:0003179)platelet count (CMO:0000029)69027815390278154Human
597056021GWAS1152095_Hbasophil count QTL GWAS1152095 (human)2e-10basophil count69029650890296509Human
597587480GWAS1644340_Hskin cancer QTL GWAS1644340 (human)7e-55skin cancer69026704990267050Human
597162512GWAS1258586_HGraves disease QTL GWAS1258586 (human)7e-09Graves disease69027940690279407Human
407111119GWAS760095_Hrespiratory system disease QTL GWAS760095 (human)3e-26respiratory system disease69022079490220795Human
407141839GWAS790815_Hasthma QTL GWAS790815 (human)9e-13asthma69027696790276968Human
597593621GWAS1650481_Hplatelet count QTL GWAS1650481 (human)4e-30platelet count69027815390278154Human
628497656GWAS2405885_Hcentral nervous system non-hodgkin lymphoma QTL GWAS2405885 (human)0.0000001central nervous system non-hodgkin lymphoma69021689390216894Human
628457701GWAS2365930_Hblood protein amount QTL GWAS2365930 (human)2e-13blood protein amount69026704990267050Human
407011795GWAS660771_HVitiligo QTL GWAS660771 (human)1e-14Vitiligo69026704990267050Human
597827120GWAS1694511_Htype 1 diabetes mellitus QTL GWAS1694511 (human)4e-15type 1 diabetes mellitus69027940690279407Human
597253645GWAS1349719_Hnon-melanoma skin carcinoma QTL GWAS1349719 (human)3e-13non-melanoma skin carcinoma69026704990267050Human
407023063GWAS672039_Hserum IgG glycosylation measurement QTL GWAS672039 (human)7e-09serum IgG glycosylation measurement68994806489948065Human
597080579GWAS1176653_Hmyeloid white cell count QTL GWAS1176653 (human)3e-28eosinophil count69023676090236761Human
597604875GWAS1661735_Hskin neoplasm QTL GWAS1661735 (human)2e-16skin neoplasm69026704990267050Human
626443469GWAS2257402_Heosinophil count QTL GWAS2257402 (human)1e-43eosinophil count69024669090246691Human
628457705GWAS2365934_Hblood protein amount QTL GWAS2365934 (human)3e-10blood protein amount69025923090259231Human
407203301GWAS852277_Hblood protein measurement QTL GWAS852277 (human)3e-10blood protein measurement69025923090259231Human
597065270GWAS1161344_Htype 1 diabetes mellitus QTL GWAS1161344 (human)6e-14type 1 diabetes mellitus69026704990267050Human
597110327GWAS1206401_HInhalant adrenergic use measurement QTL GWAS1206401 (human)1e-18Inhalant adrenergic use measurement69029650890296509Human
597233208GWAS1329282_Hblood protein measurement QTL GWAS1329282 (human)4e-23blood protein measurement69026344090263441Human
597599803GWAS1656663_Hmean corpuscular hemoglobin concentration QTL GWAS1656663 (human)4e-36mean corpuscular hemoglobin concentration69024669090246691Human
597052979GWAS1149053_Hnon-melanoma skin carcinoma QTL GWAS1149053 (human)0.000001rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement69026704990267050Human
407036388GWAS685364_Hmyeloid white cell count QTL GWAS685364 (human)3e-28eosinophil count69023676090236761Human
628810972GWAS2719201_HThyroid preparation use measurement QTL GWAS2719201 (human)9e-41Thyroid preparation use measurement69027940690279407Human
597320243GWAS1416317_Hsquamous cell carcinoma QTL GWAS1416317 (human)2e-33squamous cell carcinoma69026704990267050Human
407302636GWAS951612_Hchildhood onset asthma QTL GWAS951612 (human)3e-38childhood onset asthma69026689090266891Human
626444541GWAS2258474_Heosinophil count QTL GWAS2258474 (human)6e-92eosinophil count69024627690246277Human
628978902GWAS2887131_Hcutaneous melanoma QTL GWAS2887131 (human)1e-19cutaneous melanoma69026704990267050Human
407163369GWAS812345_HFEV/FVC ratio QTL GWAS812345 (human)2e-11FEV/FVC ratio69029650890296509Human
598026763GWAS1746062_Herythrocyte volume QTL GWAS1746062 (human)2e-34erythrocyte volume69024669090246691Human
628999373GWAS2907602_Hplatelet count QTL GWAS2907602 (human)4e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)69010915590109156Human
597047846GWAS1143920_Hleukocyte count QTL GWAS1143920 (human)9e-24leukocyte count69022566490225665Human
597610031GWAS1666891_Hmonocyte count QTL GWAS1666891 (human)3e-22monocyte count69017710590177106Human
596965927GWAS1085446_Hrheumatoid arthritis, type 1 diabetes mellitus QTL GWAS1085446 (human)4e-10rheumatoid arthritis, type 1 diabetes mellitus69024774490247745Human
597584426GWAS1641286_Hmean corpuscular volume QTL GWAS1641286 (human)6e-16mean corpuscular volume69024669090246691Human
628815054GWAS2723283_Hinflammatory bowel disease QTL GWAS2723283 (human)3e-10intestine integrity trait (VT:0010554)69027431690274317Human
407362047GWAS1011023_HThyroid preparation use measurement QTL GWAS1011023 (human)9e-41Thyroid preparation use measurement69027940690279407Human
407034362GWAS683338_Hmyeloid white cell count QTL GWAS683338 (human)1e-26myeloid white cell count69028663090286631Human
616519942GWAS1916525_Heosinophil count QTL GWAS1916525 (human)1e-62eosinophil count69024669090246691Human
597098028GWAS1194102_Hleukocyte count QTL GWAS1194102 (human)4e-22leukocyte count69025389590253896Human
406886907GWAS535883_HCrohn's disease QTL GWAS535883 (human)1e-10Crohn's disease69026344090263441Human
597057106GWAS1153180_Heosinophil count QTL GWAS1153180 (human)6e-92eosinophil count69024627690246277Human
628608179GWAS2516408_Hchildhood onset asthma QTL GWAS2516408 (human)1e-20childhood onset asthma69025389590253896Human
407006596GWAS655572_Hasthma QTL GWAS655572 (human)1e-38asthma69023875790238758Human
407321984GWAS970960_Hblood protein measurement QTL GWAS970960 (human)5e-67blood protein measurement69026704990267050Human
626442399GWAS2256332_Heosinophil count QTL GWAS2256332 (human)5e-74eosinophil count69024669090246691Human
406986121GWAS635097_Hnon-melanoma skin carcinoma QTL GWAS635097 (human)0.000001rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement69026704990267050Human
597584467GWAS1641327_Hmean corpuscular hemoglobin concentration QTL GWAS1641327 (human)3e-16mean corpuscular hemoglobin concentration69027696790276968Human
597143129GWAS1239203_HS-7-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS1239203 (human)4e-08S-7-hydroxywarfarin to S-warfarin ratio measurement69028860390288604Human
406927761GWAS576737_Hmosquito bite reaction size measurement QTL GWAS576737 (human)0.000008mosquito bite reaction size measurement69026704990267050Human
407386520GWAS1035496_Hceliac disease QTL GWAS1035496 (human)0.0000004celiac disease69026704990267050Human
597216846GWAS1312920_Hchildhood onset asthma QTL GWAS1312920 (human)3e-38childhood onset asthma69026689090266891Human
628980906GWAS2889135_Hsquamous cell carcinoma QTL GWAS2889135 (human)4e-18squamous cell carcinoma69026704990267050Human
597210690GWAS1306764_Hlatent autoimmune diabetes in adults QTL GWAS1306764 (human)0.0000001pancreas integrity trait (VT:0010560)69024851290248513Human
597346886GWAS1442960_Heosinophil measurement QTL GWAS1442960 (human)9e-11eosinophil measurement69015650890156509Human
407306650GWAS955626_Hasthma QTL GWAS955626 (human)2e-08asthma69024090990240910Human
597063240GWAS1159314_Hbody height QTL GWAS1159314 (human)0.000004body height69014101190141012Human
628938914GWAS2847143_Hskin cancer QTL GWAS2847143 (human)1e-30skin cancer69026704990267050Human
407386519GWAS1035495_Htype 2 diabetes mellitus QTL GWAS1035495 (human)1e-11type 2 diabetes mellitus69026704990267050Human
598095430GWAS1812823_Hblood immunoglobulin amount QTL GWAS1812823 (human)0.000001blood immunoglobulin amount69024851290248513Human
628747417GWAS2655646_Hrespiratory system disease QTL GWAS2655646 (human)3e-37lung integrity trait (VT:0010906)69025389590253896Human
407035299GWAS684275_Hmean reticulocyte volume QTL GWAS684275 (human)8e-41mean reticulocyte volume69023837490238375Human
597049972GWAS1146046_Hcutaneous squamous cell carcinoma QTL GWAS1146046 (human)4e-09cutaneous squamous cell carcinoma69017067490170675Human
597238396GWAS1334470_Hlymphocyte count QTL GWAS1334470 (human)4e-14lymphocyte count69026704990267050Human
406941095GWAS590071_Hautoimmune thyroid disease QTL GWAS590071 (human)6e-42autoimmune thyroid disease69028033190280332Human
628457618GWAS2365847_Hblood protein amount QTL GWAS2365847 (human)2e-26blood protein amount69026704990267050Human
406907304GWAS556280_Hankylosing spondylitis QTL GWAS556280 (human)3e-08ankylosing spondylitis68995605489956055Human
406959529GWAS608505_Hmonocyte percentage of leukocytes QTL GWAS608505 (human)6e-12monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)69019308990193090Human
407036330GWAS685306_Hadult onset asthma QTL GWAS685306 (human)2e-15adult onset asthma69027663490276635Human
597048956GWAS1145030_Hallergic rhinitis QTL GWAS1145030 (human)2e-18allergic rhinitis69029650890296509Human
597586549GWAS1643409_Heosinophil count QTL GWAS1643409 (human)1e-51eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
407101871GWAS750847_Heosinophil count QTL GWAS750847 (human)4e-79eosinophil count69024669090246691Human
598096458GWAS1813851_Hblood immunoglobulin amount QTL GWAS1813851 (human)2e-08blood immunoglobulin amount69028176990281770Human
407101870GWAS750846_Heosinophil count QTL GWAS750846 (human)2e-10eosinophil count69012954590129546Human
597341815GWAS1437889_Hasthma QTL GWAS1437889 (human)1e-38asthma69023875790238758Human
407277995GWAS926971_Hasthma QTL GWAS926971 (human)9e-24asthma69027684090276841Human
407101869GWAS750845_Heosinophil count QTL GWAS750845 (human)5e-08eosinophil count69002855890028559Human
407000492GWAS649468_Hadult onset asthma QTL GWAS649468 (human)3e-14adult onset asthma69027547990275480Human
628938892GWAS2847121_Hleukocyte quantity QTL GWAS2847121 (human)4e-35leukocyte quantity69027696790276968Human
597227113GWAS1323187_Hasthma, age at onset QTL GWAS1323187 (human)0.0000003asthma, age at onset69026689090266891Human
407013811GWAS662787_Hrheumatoid arthritis QTL GWAS662787 (human)0.0000008rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement69026704990267050Human
628820109GWAS2728338_Heosinophil count QTL GWAS2728338 (human)1e-62eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
597587560GWAS1644420_Hcutaneous melanoma QTL GWAS1644420 (human)5e-27cutaneous melanoma69026704990267050Human
597057121GWAS1153195_HEczematoid dermatitis, allergic rhinitis QTL GWAS1153195 (human)5e-18Eczematoid dermatitis, allergic rhinitis69024878390248784Human
628992134GWAS2900363_Hlymphocyte count QTL GWAS2900363 (human)5e-28lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
597071467GWAS1167541_Hankylosing spondylitis QTL GWAS1167541 (human)5e-08ankylosing spondylitis68995605489956055Human
597585504GWAS1642364_Hsquamous cell carcinoma QTL GWAS1642364 (human)4e-20squamous cell carcinoma69026704990267050Human
597021290GWAS1117364_HCrohn's disease QTL GWAS1117364 (human)6e-09intestine integrity trait (VT:0010554)69026344090263441Human
628438902GWAS2347131_Hcutaneous squamous cell carcinoma QTL GWAS2347131 (human)4e-09cutaneous squamous cell carcinoma69017067490170675Human
598095267GWAS1812660_Hblood immunoglobulin amount QTL GWAS1812660 (human)4e-08blood immunoglobulin amount69017067490170675Human
597613974GWAS1670834_Hasthma QTL GWAS1670834 (human)2e-11asthma69027815390278154Human
597050781GWAS1146855_Hhypothyroidism QTL GWAS1146855 (human)2e-39hypothyroidism69027940690279407Human
406962765GWAS611741_Hthyroid peroxidase antibody measurement QTL GWAS611741 (human)4e-08thyroid peroxidase antibody measurement69017067490170675Human
407364170GWAS1013146_Heducational attainment QTL GWAS1013146 (human)0.000002educational attainment69009729890097299Human
407300681GWAS949657_Hasthma, age at onset QTL GWAS949657 (human)0.0000003asthma, age at onset69026689090266891Human
616561327GWAS1957910_Hlevel of serine protease inhibitor Kazal-type 2 in blood serum QTL GWAS1957910 (human)5e-21level of serine protease inhibitor Kazal-type 2 in blood serum69023709090237091Human
406970963GWAS619939_Hbasophil count, eosinophil count QTL GWAS619939 (human)1e-28eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69023511290235113Human
598041015GWAS1760314_Hleukocyte quantity QTL GWAS1760314 (human)4e-35leukocyte quantity69027696790276968Human
628493156GWAS2401385_HGlucocorticoid use measurement QTL GWAS2401385 (human)1e-13Glucocorticoid use measurement69029650890296509Human
407045716GWAS694692_Hmetabolic rate measurement QTL GWAS694692 (human)0.000003energy metabolism trait (VT:0010637)metabolic rate (CMO:0003956)68997174789971748Human
628979556GWAS2887785_Hleukocyte quantity QTL GWAS2887785 (human)6e-29leukocyte quantity69027696790276968Human
597594500GWAS1651360_Heosinophil count QTL GWAS1651360 (human)2e-25eosinophil count69025830690258307Human
407122520GWAS771496_Hhypothyroidism QTL GWAS771496 (human)2e-39hypothyroidism69027940690279407Human
628423529GWAS2331758_Heosinophil count QTL GWAS2331758 (human)6e-92eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024627690246277Human
628983647GWAS2891876_Heosinophil count QTL GWAS2891876 (human)2e-25eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
406919778GWAS568754_Hlymphocyte count QTL GWAS568754 (human)4e-13lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
628553554GWAS2461783_Hlevel of serine protease inhibitor Kazal-type 2 in blood QTL GWAS2461783 (human)5e-21level of serine protease inhibitor Kazal-type 2 in blood69023709090237091Human
598005121GWAS1724420_Hleukocyte quantity QTL GWAS1724420 (human)9e-24leukocyte quantity69022566490225665Human
628995928GWAS2904157_Herythrocyte volume QTL GWAS2904157 (human)2e-34erythrocyte volume69024669090246691Human
407339617GWAS988593_Hmean corpuscular hemoglobin QTL GWAS988593 (human)7e-15mean corpuscular hemoglobin69025115690251157Human
598040963GWAS1760262_Hleukocyte quantity QTL GWAS1760262 (human)6e-29leukocyte quantity69027696790276968Human
596957619GWAS1077138_Hthyroid peroxidase antibody measurement QTL GWAS1077138 (human)2e-08thyroid peroxidase antibody measurement69028176990281770Human
407107179GWAS756155_HEczematoid dermatitis, allergic rhinitis QTL GWAS756155 (human)5e-18Eczematoid dermatitis, allergic rhinitis69024878390248784Human
407149166GWAS798142_Hasthma QTL GWAS798142 (human)1e-12asthma69027684090276841Human
597103032GWAS1199106_Hneutrophil count QTL GWAS1199106 (human)2e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69023676090236761Human
597112231GWAS1208305_Herythrocyte count QTL GWAS1208305 (human)3e-16erythrocyte countred blood cell count (CMO:0000025)69024878390248784Human
628691785GWAS2600014_HCrohn's disease QTL GWAS2600014 (human)2e-09intestine integrity trait (VT:0010554)69027431690274317Human
597224873GWAS1320947_Hurate measurement, bone density QTL GWAS1320947 (human)7e-11urate measurement, bone density69002819790028198Human
406908530GWAS557506_Hsystemic lupus erythematosus QTL GWAS557506 (human)1e-10systemic lupus erythematosus69029277590292776Human
407108215GWAS757191_Hautoimmune disease QTL GWAS757191 (human)5e-23autoimmune disease69026704990267050Human
406930037GWAS579013_Hatopic asthma QTL GWAS579013 (human)2e-20atopic asthma69028705090287051Human
407031413GWAS680389_Hsystemic lupus erythematosus QTL GWAS680389 (human)4e-11systemic lupus erythematosus69024774490247745Human
628443981GWAS2352210_Hmultiple sclerosis QTL GWAS2352210 (human)8e-29multiple sclerosis69026704990267050Human
597081517GWAS1177591_Hneutrophil count QTL GWAS1177591 (human)3e-13neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69023676090236761Human
628514635GWAS2422864_Hresponse to cisplatin QTL GWAS2422864 (human)4e-08response to cisplatin69002518990025190Human
628514632GWAS2422861_Hresponse to cisplatin QTL GWAS2422861 (human)0.0000007response to cisplatin69002518990025190Human
407252600GWAS901576_HGenetic chronic primary adrenal insufficiency QTL GWAS901576 (human)3e-27Genetic chronic primary adrenal insufficiency69021689390216894Human
597237213GWAS1333287_Heosinophil count QTL GWAS1333287 (human)1e-43eosinophil count69024669090246691Human
616494842GWAS1891425_Hn-methyl-2-pyridone-5-carboxamide measurement QTL GWAS1891425 (human)0.000001n-methyl-2-pyridone-5-carboxamide measurement69029213190292132Human
407134720GWAS783696_Hbasal cell carcinoma QTL GWAS783696 (human)7e-20basal cell carcinoma69029602490296025Human
597579227GWAS1636087_Hhypothyroidism QTL GWAS1636087 (human)9e-36hypothyroidism69024101790241018Human
628869948GWAS2778177_HC-C motif chemokine 22 measurement QTL GWAS2778177 (human)1e-13chemokine amount (VT:0008721)69025115690251157Human
407053835GWAS702811_Hsquamous cell carcinoma QTL GWAS702811 (human)0.0000005squamous cell carcinoma69026704990267050Human
597087710GWAS1183784_Hadult onset asthma QTL GWAS1183784 (human)2e-15adult onset asthma69027663490276635Human
597587415GWAS1644275_Hhypothyroidism QTL GWAS1644275 (human)2e-35hypothyroidism69027940690279407Human
597089756GWAS1185830_Hmyeloid white cell count QTL GWAS1185830 (human)1e-26myeloid white cell count69028663090286631Human
628606778GWAS2515007_Hhyperthyroidism QTL GWAS2515007 (human)3e-08hyperthyroidism69027660190276602Human
407126538GWAS775514_HCrohn's disease QTL GWAS775514 (human)5e-09intestine integrity trait (VT:0010554)69026344090263441Human
628948787GWAS2857016_Hlymphocyte count QTL GWAS2857016 (human)8e-16lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
407229973GWAS878949_Hasthma QTL GWAS878949 (human)7e-11asthma69027547990275480Human
628533031GWAS2441260_Hfatty acid amount QTL GWAS2441260 (human)2e-10fatty acid amount69025761890257619Human
407282196GWAS931172_Hskin neoplasm QTL GWAS931172 (human)3e-11skin neoplasm69029602490296025Human
407298588GWAS947564_Hlymphocyte count QTL GWAS947564 (human)4e-10lymphocyte count69021800990218010Human
628445993GWAS2354222_Hlymphocyte count QTL GWAS2354222 (human)4e-41lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
407047714GWAS696690_Hneuropsychological test QTL GWAS696690 (human)0.000009neuropsychological test68993077289930773Human
628606741GWAS2514970_Htype 1 diabetes mellitus QTL GWAS2514970 (human)2e-09type 1 diabetes mellitus69015515190155152Human
596953586GWAS1073105_Hrespiratory system disease QTL GWAS1073105 (human)3e-37respiratory system disease69025389590253896Human
597145086GWAS1241160_Hage of onset of childhood onset asthma QTL GWAS1241160 (human)5e-14age of onset of childhood onset asthma69014730990147310Human
616546006GWAS1942589_Hlevel of T-cell surface glycoprotein CD1c in blood serum QTL GWAS1942589 (human)2e-53level of T-cell surface glycoprotein CD1c in blood serum69023875790238758Human
407377442GWAS1026418_Hnon-melanoma skin carcinoma QTL GWAS1026418 (human)3e-13non-melanoma skin carcinoma69026704990267050Human
406923818GWAS572794_Hcutaneous squamous cell carcinoma QTL GWAS572794 (human)4e-09cutaneous squamous cell carcinoma69017067490170675Human
407039534GWAS688510_Hage of onset of childhood onset asthma QTL GWAS688510 (human)5e-14age of onset of childhood onset asthma69014730990147310Human
628460313GWAS2368542_Hchildhood onset asthma QTL GWAS2368542 (human)3e-38childhood onset asthma69026689090266891Human
597579249GWAS1636109_Heosinophil count QTL GWAS1636109 (human)7e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
597047782GWAS1143856_Hchildhood onset asthma QTL GWAS1143856 (human)5e-15childhood onset asthma69029602490296025Human
597047781GWAS1143855_Hchildhood onset asthma QTL GWAS1143855 (human)5e-09childhood onset asthma69011916390119164Human
628603651GWAS2511880_HHashimoto's thyroiditis QTL GWAS2511880 (human)2e-09Hashimoto's thyroiditis69027940690279407Human
407125553GWAS774529_Htype 1 diabetes mellitus QTL GWAS774529 (human)5e-08type 1 diabetes mellitus69024851290248513Human
407210544GWAS859520_Hasthma QTL GWAS859520 (human)6e-11asthma69029161390291614Human
597162464GWAS1258538_Hasthma QTL GWAS1258538 (human)9e-24asthma69025389590253896Human
628536065GWAS2444294_Hlevel of cartilage-associated protein in blood QTL GWAS2444294 (human)2e-15level of cartilage-associated protein in blood69029650890296509Human
628861699GWAS2769928_Hrheumatoid arthritis QTL GWAS2769928 (human)1e-08joint integrity trait (VT:0010548)69026704990267050Human
406886969GWAS535945_Hinflammatory bowel disease QTL GWAS535945 (human)7e-10inflammatory bowel disease69026344090263441Human
628997892GWAS2906121_Herythrocyte count QTL GWAS2906121 (human)3e-18erythrocyte countred blood cell count (CMO:0000025)69027779390277794Human
597601764GWAS1658624_Hmonocyte count QTL GWAS1658624 (human)1e-31monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)69017710590177106Human
598019551GWAS1738850_Hobsolete_thyroid peroxidase antibody measurement QTL GWAS1738850 (human)2e-08obsolete_thyroid peroxidase antibody measurement69028176990281770Human
597587426GWAS1644286_Heosinophil count QTL GWAS1644286 (human)3e-25eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
598015449GWAS1734748_Hmyeloid leukocyte count QTL GWAS1734748 (human)3e-28eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69023676090236761Human
407232058GWAS881034_Hred blood cell density measurement QTL GWAS881034 (human)2e-24red blood cell density measurement69029650890296509Human
597281051GWAS1377125_Hrheumatoid arthritis QTL GWAS1377125 (human)6e-09rheumatoid arthritis69026704990267050Human
597020950GWAS1117024_Hinflammatory bowel disease QTL GWAS1117024 (human)2e-09intestine integrity trait (VT:0010554)69026344090263441Human
628623358GWAS2531587_HEczematoid dermatitis QTL GWAS2531587 (human)1e-18Eczematoid dermatitis69024878390248784Human
628499440GWAS2407669_HCD79B/TNFRSF13B protein level ratio in blood QTL GWAS2407669 (human)4e-23CD79B/TNFRSF13B protein level ratio in blood69026344090263441Human
407249600GWAS898576_Hasthma QTL GWAS898576 (human)2e-46asthma69029650890296509Human
628433917GWAS2342146_Hnon-melanoma skin carcinoma QTL GWAS2342146 (human)0.000001joint integrity trait (VT:0010548)69026704990267050Human
597614871GWAS1671731_Hplatelet count QTL GWAS1671731 (human)5e-13platelet count69010915590109156Human
628478968GWAS2387197_Hrheumatoid arthritis QTL GWAS2387197 (human)0.0000008joint integrity trait (VT:0010548)69026704990267050Human
407113419GWAS762395_Hmean corpuscular hemoglobin QTL GWAS762395 (human)2e-21erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)69027779390277794Human
407297737GWAS946713_Hhypothyroidism QTL GWAS946713 (human)2e-43hypothyroidism69027940690279407Human
625829853GWAS2250775_Hplatelet-derived growth factor complex BB dimer amount QTL GWAS2250775 (human)0.000007platelet-derived growth factor complex BB dimer amount68998552789985528Human
407108310GWAS757286_Herythrocyte count QTL GWAS757286 (human)3e-16erythrocyte count69024878390248784Human
628785133GWAS2693362_Hasthma QTL GWAS2693362 (human)1e-25asthma69029161390291614Human
626450382GWAS2264315_Htreatment-resistant hypertension QTL GWAS2264315 (human)0.000009treatment-resistant hypertension69025664590256646Human
597171459GWAS1267533_Hphosphoglycerides measurement QTL GWAS1267533 (human)7e-10phosphoglycerides measurement 69025761890257619Human
407182040GWAS831016_Hhyperthyroidism QTL GWAS831016 (human)3e-08hyperthyroidism69027660190276602Human
616384034GWAS1864276_Hobsolete_lymphocyte measurement QTL GWAS1864276 (human)3e-14obsolete_lymphocyte measurement69026704990267050Human
616520223GWAS1916806_Hmonocyte percentage of leukocytes QTL GWAS1916806 (human)2e-29monocyte percentage of leukocytes69022566490225665Human
628972510GWAS2880739_Hskin cancer QTL GWAS2880739 (human)1e-33skin cancer69026704990267050Human
406904547GWAS553523_HR-6-hydroxywarfarin measurement QTL GWAS553523 (human)0.000002R-6-hydroxywarfarin measurement69029277590292776Human
597105971GWAS1202045_Hasthma QTL GWAS1202045 (human)2e-08asthma69024090990240910Human
406941413GWAS590389_Heosinophil count QTL GWAS590389 (human)5e-74eosinophil count69024669090246691Human
597063986GWAS1160060_Hmosquito bite reaction size measurement QTL GWAS1160060 (human)0.000008mosquito bite reaction size measurement69026704990267050Human
597599547GWAS1656407_Hmean corpuscular hemoglobin concentration QTL GWAS1656407 (human)1e-30mean corpuscular hemoglobin concentration69024669090246691Human
406900453GWAS549429_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS549429 (human)2e-10intestine integrity trait (VT:0010554)69026704990267050Human
628631504GWAS2539733_Hrisk-taking behaviour QTL GWAS2539733 (human)8e-10exploratory behavior trait (VT:0010471)69012155090121551Human
407119597GWAS768573_Herythrocyte count QTL GWAS768573 (human)2e-15erythrocyte count69027160090271601Human
628725715GWAS2633944_Hglioma pathogenesis-related protein 1 measurement QTL GWAS2633944 (human)2e-24glioma pathogenesis-related protein 1 measurement69002617590026176Human
597595444GWAS1652304_Hskin cancer QTL GWAS1652304 (human)1e-33skin cancer69026704990267050Human
628723671GWAS2631900_Hprogranulin measurement QTL GWAS2631900 (human)3e-14blood protein amount (VT:0005416)69023157090231571Human
597978388GWAS1697687_Hleukocyte quantity QTL GWAS1697687 (human)1e-09leukocyte quantity69029161390291614Human
407124721GWAS773697_Htype 1 diabetes mellitus QTL GWAS773697 (human)3e-08type 1 diabetes mellitus69024851290248513Human
407177971GWAS826947_Hbasophil count QTL GWAS826947 (human)2e-10basophil count69029650890296509Human
628881356GWAS2789585_Heducational attainment QTL GWAS2789585 (human)0.000002educational attainment69009729890097299Human
597217583GWAS1313657_Hadult onset asthma QTL GWAS1313657 (human)3e-14adult onset asthma69027547990275480Human
597611817GWAS1668677_Herythrocyte count QTL GWAS1668677 (human)1e-13erythrocyte count69027779390277794Human
628429773GWAS2338002_Heosinophil count QTL GWAS2338002 (human)5e-74eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
407009018GWAS657994_Htype 1 diabetes mellitus QTL GWAS657994 (human)6e-14type 1 diabetes mellitus69026704990267050Human
628898757GWAS2806986_Hrheumatoid arthritis QTL GWAS2806986 (human)6e-09joint integrity trait (VT:0010548)69026704990267050Human
628707266GWAS2615495_Hreceptor-type tyrosine-protein kinase flt3 measurement QTL GWAS2615495 (human)3e-23enzyme/coenzyme activity trait (VT:0005584)69026866490268665Human
628463561GWAS2371790_Hasthma QTL GWAS2371790 (human)5e-27asthma69022079490220795Human
407342842GWAS991818_Hschizophrenia QTL GWAS991818 (human)0.000003schizophrenia69019308990193090Human
597602593GWAS1659453_Hmonocyte count QTL GWAS1659453 (human)1e-48monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)69017710590177106Human
598026596GWAS1745895_Herythrocyte volume QTL GWAS1745895 (human)8e-29erythrocyte volume69024669090246691Human
628970425GWAS2878654_Hplatelet count QTL GWAS2878654 (human)5e-25platelet quantity (VT:0003179)platelet count (CMO:0000029)69027815390278154Human
628818878GWAS2727107_Heosinophil count QTL GWAS2727107 (human)5e-52eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024878390248784Human
597587285GWAS1644145_Hthyroid disease, drug use measurement QTL GWAS1644145 (human)3e-20thyroid disease, drug use measurement69028033190280332Human
407125652GWAS774628_Hasthma, Eczematoid dermatitis, allergic rhinitis QTL GWAS774628 (human)8e-23asthma, Eczematoid dermatitis, allergic rhinitis69024878390248784Human
597163334GWAS1259408_Hhyperthyroidism QTL GWAS1259408 (human)3e-08hyperthyroidism69027660190276602Human
597214541GWAS1310615_Hbone density QTL GWAS1310615 (human)1e-300bone density69010260990102610Human
628663200GWAS2571429_Hlymphocyte amount QTL GWAS2571429 (human)3e-14lymphocyte amount69026704990267050Human
407181981GWAS830957_HHashimoto's thyroiditis QTL GWAS830957 (human)2e-09Hashimoto's thyroiditis69027940690279407Human
597326146GWAS1422220_HFEV/FVC ratio QTL GWAS1422220 (human)2e-11FEV/FVC ratio69029650890296509Human
407211676GWAS860652_HEczematoid dermatitis QTL GWAS860652 (human)1e-18Eczematoid dermatitis69024878390248784Human
628544406GWAS2452635_Hlymphocyte count QTL GWAS2452635 (human)4e-34lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
616367711GWAS1847953_Hautoimmune disease QTL GWAS1847953 (human)9e-12obsolete_blood protein measurement69026704990267050Human
597039475GWAS1135549_Hrisk-taking behaviour QTL GWAS1135549 (human)8e-10risk-taking behaviour69012155090121551Human
628826012GWAS2734241_Hhyperthyroidism QTL GWAS2734241 (human)2e-08hyperthyroidism69029602490296025Human
628692883GWAS2601112_Htotal blood protein measurement QTL GWAS2601112 (human)7e-27blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)69015515190155152Human
597605746GWAS1662606_Hleukocyte count QTL GWAS1662606 (human)4e-35leukocyte count69027696790276968Human
628849559GWAS2757788_HR-6-hydroxywarfarin measurement QTL GWAS2757788 (human)0.000002R-6-hydroxywarfarin measurement69029277590292776Human
616353362GWAS1838077_Hgut microbiome measurement, breastfeeding duration QTL GWAS1838077 (human)3e-08gut microbiome measurement, breastfeeding duration69001339390013394Human
598028629GWAS1747928_Hleukocyte quantity QTL GWAS1747928 (human)1e-15leukocyte quantity69027696790276968Human
628522886GWAS2431115_Hblood immunoglobulin amount QTL GWAS2431115 (human)2e-08blood immunoglobulin amount69028176990281770Human
628709256GWAS2617485_HC-type lectin domain family 4 member K amount QTL GWAS2617485 (human)3e-71C-type lectin domain family 4 member K amount69022213990222140Human
597163365GWAS1259439_Htype 1 diabetes mellitus QTL GWAS1259439 (human)2e-09type 1 diabetes mellitus69015515190155152Human
407200438GWAS849414_Hasthma QTL GWAS849414 (human)1e-25asthma69029161390291614Human
407102134GWAS751110_Hleukocyte count QTL GWAS751110 (human)4e-22leukocyte count69025389590253896Human
406908597GWAS557573_Hsystemic lupus erythematosus QTL GWAS557573 (human)4e-12systemic lupus erythematosus69029277590292776Human
597243247GWAS1339321_Hthyroid peroxidase antibody measurement QTL GWAS1339321 (human)2e-08thyroid peroxidase antibody measurement69028176990281770Human
407386800GWAS1035776_Hbasal cell carcinoma QTL GWAS1035776 (human)3e-65basal cell carcinoma69026704990267050Human
407174840GWAS823816_Hatopic eczema QTL GWAS823816 (human)2e-44atopic eczema69022079490220795Human
597990745GWAS1710044_Hbody height QTL GWAS1710044 (human)0.000004body height69014101190141012Human
616388532GWAS1868774_Hobsolete_lymphocyte measurement QTL GWAS1868774 (human)6e-12obsolete_lymphocyte measurement69029602490296025Human
628506236GWAS2414465_Hbone tissue density QTL GWAS2414465 (human)1e-300bone tissue density69010260990102610Human
628961905GWAS2870134_Hlymphocyte count QTL GWAS2870134 (human)3e-15lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
597825708GWAS1693099_Heosinophil count QTL GWAS1693099 (human)3e-28eosinophil count69023676090236761Human
628852331GWAS2760560_Hsmoking initiation QTL GWAS2760560 (human)4e-12behavior trait (VT:0010442)69026805190268052Human
628821611GWAS2729840_Hhypothyroidism QTL GWAS2729840 (human)4e-37hypothyroidism69028033190280332Human
628423269GWAS2331498_Hreaction time measurement QTL GWAS2331498 (human)0.000003cognitive behavior trait (VT:0010450)69011200890112009Human
597279880GWAS1375954_Hhypothyroidism QTL GWAS1375954 (human)8e-41hypothyroidism69017067490170675Human
628495975GWAS2404204_Htype 2 diabetes mellitus QTL GWAS2404204 (human)1e-11multiple sclerosis69026704990267050Human
598143157GWAS1829885_Hbone tissue density QTL GWAS1829885 (human)1e-300bone tissue density69010260990102610Human
616496045GWAS1892628_Hlymphocyte amount QTL GWAS1892628 (human)3e-14lymphocyte amount69026704990267050Human
597054595GWAS1150669_Hmultiple sclerosis QTL GWAS1150669 (human)8e-29multiple sclerosis69026704990267050Human
406960980GWAS609956_Hleukocyte count QTL GWAS609956 (human)1e-09leukocyte count69029161390291614Human
407182163GWAS831139_Hasthma QTL GWAS831139 (human)9e-24asthma69025389590253896Human
628629089GWAS2537318_Hgut microbiome measurement, breastfeeding duration QTL GWAS2537318 (human)5e-08lactation duration (VT:1000653)69007563290075633Human
407149402GWAS798378_Hchildhood onset asthma QTL GWAS798378 (human)5e-09childhood onset asthma69011916390119164Human
407149403GWAS798379_Hchildhood onset asthma QTL GWAS798379 (human)5e-15childhood onset asthma69029602490296025Human
628855386GWAS2763615_HCOVID-19 QTL GWAS2763615 (human)7e-10COVID-1969012010090120101Human
628494935GWAS2403164_Hrheumatoid arthritis QTL GWAS2403164 (human)2e-08joint integrity trait (VT:0010548)69026704990267050Human
628997721GWAS2905950_Hmean corpuscular hemoglobin concentration QTL GWAS2905950 (human)1e-30erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)69024669090246691Human
628661853GWAS2570082_Heosinophil measurement QTL GWAS2570082 (human)9e-11eosinophil morphology trait (VT:0005061)69015650890156509Human
628609617GWAS2517846_Hautoimmune thyroid disease QTL GWAS2517846 (human)7e-28autoimmune thyroid disease69028033190280332Human
597580985GWAS1637845_Hlymphocyte count QTL GWAS1637845 (human)8e-16lymphocyte count69026704990267050Human
597293236GWAS1389310_Hautoimmune thyroid disease QTL GWAS1389310 (human)7e-28autoimmune thyroid disease69028033190280332Human
597023930GWAS1120004_Hallergic disease QTL GWAS1120004 (human)2e-17allergic disease69027779390277794Human
597589165GWAS1646025_Hmonocyte count QTL GWAS1646025 (human)3e-20monocyte count69019308990193090Human
628802127GWAS2710356_Hage of onset of childhood onset asthma QTL GWAS2710356 (human)5e-14age of onset of childhood onset asthma69014730990147310Human
597051555GWAS1147629_Heosinophil count QTL GWAS1147629 (human)5e-74eosinophil count69024669090246691Human
597587113GWAS1643973_Hthyroid disease QTL GWAS1643973 (human)1e-17thyroid disease69026628090266281Human
597081262GWAS1177336_Hneutrophil count QTL GWAS1177336 (human)5e-12neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)69023676090236761Human
597092526GWAS1188600_HCrohn's disease QTL GWAS1188600 (human)1e-10intestine integrity trait (VT:0010554)69026344090263441Human
597998748GWAS1718047_Herythrocyte volume QTL GWAS1718047 (human)5e-16erythrocyte volume69027779390277794Human
597074092GWAS1170166_Hasthma QTL GWAS1170166 (human)9e-13asthma69027696790276968Human
407079800GWAS728776_Htotal blood protein measurement QTL GWAS728776 (human)7e-27total blood protein measurement69015515190155152Human
628607564GWAS2515793_Hhypothyroidism QTL GWAS2515793 (human)2e-24basal cell carcinoma69029602490296025Human
628627013GWAS2535242_Hrespiratory system disease QTL GWAS2535242 (human)3e-26lung integrity trait (VT:0010906)69022079490220795Human
406970236GWAS619212_Hmean corpuscular volume QTL GWAS619212 (human)9e-10mean corpuscular volume69022717590227176Human
628992576GWAS2900805_Hleukocyte quantity QTL GWAS2900805 (human)1e-15leukocyte quantity69027696790276968Human
597055700GWAS1151774_Hrespiratory system disease QTL GWAS1151774 (human)3e-26respiratory system disease69022079490220795Human
626441748GWAS2255681_Heosinophil count QTL GWAS2255681 (human)1e-27eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
597328094GWAS1424168_Hbasal cell carcinoma QTL GWAS1424168 (human)4e-24basal cell carcinoma69029602490296025Human
407028484GWAS677460_Hvisceral:subcutaneous adipose tissue ratio QTL GWAS677460 (human)0.0000006adipose morphology trait (VT:0000003)68998855589988556Human
597320924GWAS1416998_Hbasal cell carcinoma QTL GWAS1416998 (human)3e-65basal cell carcinoma69026704990267050Human
407054084GWAS703060_Hkeratinocyte carcinoma QTL GWAS703060 (human)1e-20lymphocyte count69026704990267050Human
628510270GWAS2418499_Hsystemic lupus erythematosus QTL GWAS2418499 (human)4e-11systemic lupus erythematosus69024774490247745Human
597204177GWAS1300251_Hasthma QTL GWAS1300251 (human)5e-27asthma69022079490220795Human
406929163GWAS578139_HCrohn's disease QTL GWAS578139 (human)6e-09Crohn's disease69026344090263441Human
597051613GWAS1147687_Hasthma, Eczematoid dermatitis, allergic rhinitis QTL GWAS1147687 (human)8e-23asthma, Eczematoid dermatitis, allergic rhinitis69024878390248784Human
597287122GWAS1383196_Hinflammatory bowel disease QTL GWAS1383196 (human)3e-10inflammatory bowel disease69027431690274317Human
628915767GWAS2823996_Hatopic eczema QTL GWAS2823996 (human)3e-13atopic eczema69027547990275480Human
407141135GWAS790111_Hasthma QTL GWAS790111 (human)2e-12asthma69027696790276968Human
407259915GWAS908891_Hlymphocyte percentage of leukocytes QTL GWAS908891 (human)2e-10lymphocyte percentage of leukocytes69029602490296025Human
597613776GWAS1670636_Hmean corpuscular volume QTL GWAS1670636 (human)8e-29mean corpuscular volume69024669090246691Human
597071046GWAS1167120_Hankylosing spondylitis QTL GWAS1167120 (human)3e-08ankylosing spondylitis68995605489956055Human
407363348GWAS1012324_Hcutaneous squamous cell carcinoma QTL GWAS1012324 (human)2e-08rheumatoid arthritis69026704990267050Human
597074112GWAS1170186_Hinterleukin-6 measurement QTL GWAS1170186 (human)0.000005blood interleukin-6 amount (VT:0008595)blood interleukin-6 level (CMO:0001926)69004563390045634Human
406954774GWAS603750_Heosinophil count QTL GWAS603750 (human)1e-27eosinophil count69024669090246691Human
407200542GWAS849518_Hmean corpuscular volume QTL GWAS849518 (human)5e-16mean corpuscular volume69027779390277794Human
597163212GWAS1259286_Hhypothyroidism QTL GWAS1259286 (human)2e-24basal cell carcinoma69029602490296025Human
628916770GWAS2824999_Hrheumatoid arthritis, type 1 diabetes mellitus QTL GWAS2824999 (human)4e-10joint integrity trait (VT:0010548)69024774490247745Human
406939433GWAS588409_Heosinophil percentage of leukocytes QTL GWAS588409 (human)8e-54eosinophil percentage of leukocytes69024878390248784Human
597050622GWAS1146696_Herythrocyte count QTL GWAS1146696 (human)2e-15erythrocyte countred blood cell count (CMO:0000025)69027160090271601Human
628851219GWAS2759448_HS-7-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS2759448 (human)4e-08S-7-hydroxywarfarin to S-warfarin ratio measurement69028860390288604Human
628786707GWAS2694936_Hlymphocyte count QTL GWAS2694936 (human)4e-14lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
597213426GWAS1309500_Hrheumatoid arthritis QTL GWAS1309500 (human)2e-08cutaneous squamous cell carcinoma69026704990267050Human
406962986GWAS611962_HCOVID-19 QTL GWAS611962 (human)3e-09COVID-1969011916390119164Human
617098148GWAS2115647_Hlymphocyte count QTL GWAS2115647 (human)4e-34lymphocyte count69026704990267050Human
628901394GWAS2809623_Hhypothyroidism QTL GWAS2809623 (human)2e-43hypothyroidism69027940690279407Human
597278954GWAS1375028_Heosinophil count QTL GWAS1375028 (human)5e-52eosinophil count69024878390248784Human
597597418GWAS1654278_Hlymphocyte count QTL GWAS1654278 (human)2e-15lymphocyte count69026704990267050Human
628997637GWAS2905866_Hplatelet count QTL GWAS2905866 (human)5e-13platelet quantity (VT:0003179)platelet count (CMO:0000029)69010915590109156Human
597978333GWAS1697632_Herythrocyte volume QTL GWAS1697632 (human)9e-10erythrocyte volume69022717590227176Human
597031151GWAS1127225_Hsquamous cell carcinoma QTL GWAS1127225 (human)0.0000005squamous cell carcinoma69026704990267050Human
597247204GWAS1343278_Hasthma QTL GWAS1343278 (human)1e-25asthma69029161390291614Human
628444682GWAS2352911_Heosinophil percentage of leukocytes QTL GWAS2352911 (human)8e-54eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)69024878390248784Human
597061655GWAS1157729_Hbasophil count QTL GWAS1157729 (human)2e-11basophil count69009863390098634Human
628694779GWAS2603008_Hmean corpuscular hemoglobin QTL GWAS2603008 (human)2e-18erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)69026344090263441Human
628497136GWAS2405365_Hasthma, age at onset QTL GWAS2405365 (human)0.0000003asthma, age at onset69027547990275480Human
597292062GWAS1388136_Hrespiratory system disease QTL GWAS1388136 (human)3e-37respiratory system disease69025389590253896Human
596988946GWAS1108465_Hautoimmune thyroid disease QTL GWAS1108465 (human)7e-28autoimmune thyroid disease69028033190280332Human
407065545GWAS714521_Hmonocyte percentage of leukocytes QTL GWAS714521 (human)5e-31monocyte percentage of leukocytes69022566490225665Human
597229586GWAS1325660_Hasthma QTL GWAS1325660 (human)7e-29asthma69027547990275480Human
597073949GWAS1170023_Hasthma QTL GWAS1170023 (human)2e-12asthma69027696790276968Human
597302294GWAS1398368_Hmean corpuscular hemoglobin QTL GWAS1398368 (human)7e-15mean corpuscular hemoglobin69025115690251157Human
616534832GWAS1931415_Hlevel of cartilage-associated protein in blood QTL GWAS1931415 (human)2e-15level of cartilage-associated protein in blood69029650890296509Human
597075970GWAS1172044_HVitiligo QTL GWAS1172044 (human)1e-14Vitiligo69026704990267050Human
406922196GWAS571172_Hrisk-taking behaviour QTL GWAS571172 (human)8e-10risk-taking behaviour69012155090121551Human
597229583GWAS1325657_Hasthma QTL GWAS1325657 (human)1e-28asthma69026689090266891Human
407054292GWAS703268_Heosinophil count QTL GWAS703268 (human)6e-92eosinophil count69024627690246277Human
597587977GWAS1644837_Heosinophil count QTL GWAS1644837 (human)1e-31eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
597081089GWAS1177163_Hlymphocyte count QTL GWAS1177163 (human)4e-22lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
406992853GWAS641829_Hsmoking initiation QTL GWAS641829 (human)4e-12smoking initiation69026805190268052Human
407378898GWAS1027874_Hrheumatoid arthritis QTL GWAS1027874 (human)6e-09rheumatoid arthritis69026704990267050Human
628862688GWAS2770917_Hasthma QTL GWAS2770917 (human)5e-23asthma69027684090276841Human
616382241GWAS1862483_Hobsolete_blood protein measurement QTL GWAS1862483 (human)8e-16obsolete_blood protein measurement69014253990142540Human
598054969GWAS1774268_Herythrocyte volume QTL GWAS1774268 (human)6e-16erythrocyte volume69024669090246691Human
616509218GWAS1905801_Hblood protein amount QTL GWAS1905801 (human)2e-26blood protein amount69026704990267050Human
407015389GWAS664365_Hmean corpuscular hemoglobin QTL GWAS664365 (human)3e-26mean corpuscular hemoglobin69027779390277794Human
616382237GWAS1862479_Hobsolete_blood protein measurement QTL GWAS1862479 (human)1e-12obsolete_blood protein measurement69014044590140446Human
628846296GWAS2754525_Hsquamous cell carcinoma QTL GWAS2754525 (human)2e-33squamous cell carcinoma69026704990267050Human
597344319GWAS1440393_Hlymphocyte measurement QTL GWAS1440393 (human)6e-12lymphocyte measurement69029602490296025Human
406894566GWAS543542_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS543542 (human)5e-10intestine integrity trait (VT:0010554)69026344090263441Human
407367648GWAS1016624_Hblood protein measurement QTL GWAS1016624 (human)4e-23blood protein measurement69026344090263441Human
597026879GWAS1122953_Hcesarean section, intelligence QTL GWAS1122953 (human)0.000007cesarean section, intelligence69001513690015137Human
597987342GWAS1706641_Hleukocyte quantity QTL GWAS1706641 (human)4e-22leukocyte quantity69025389590253896Human
597070886GWAS1166960_HBMI-adjusted hip circumference QTL GWAS1166960 (human)0.000002BMI-adjusted hip circumferencehip circumference (CMO:0000014)69019044590190446Human
407265270GWAS914246_HGlucocorticoid use measurement QTL GWAS914246 (human)1e-13Glucocorticoid use measurement69029650890296509Human
406963184GWAS612160_HCOVID-19 QTL GWAS612160 (human)7e-10COVID-1969012010090120101Human
628625097GWAS2533326_Hhypothyroidism QTL GWAS2533326 (human)2e-39hypothyroidism69027940690279407Human
597066789GWAS1162863_HGraves disease QTL GWAS1162863 (human)0.000004Graves disease69026704990267050Human
407183350GWAS832326_Hlymphocyte measurement QTL GWAS832326 (human)6e-12lymphocyte measurement69029602490296025Human
407362559GWAS1011535_Hlymphocyte measurement QTL GWAS1011535 (human)3e-14lymphocyte measurement69026704990267050Human
598012957GWAS1732256_HCD79B/TNFRSF13B protein level ratio in blood QTL GWAS1732256 (human)4e-23CD79B/TNFRSF13B protein level ratio in blood69026344090263441Human
406986744GWAS635720_Hlatent autoimmune diabetes in adults QTL GWAS635720 (human)0.0000001latent autoimmune diabetes in adults69024851290248513Human
407270396GWAS919372_Hasthma QTL GWAS919372 (human)2e-25asthma69027160090271601Human
616527618GWAS1924201_Hmean corpuscular hemoglobin QTL GWAS1924201 (human)2e-18mean corpuscular hemoglobin69026344090263441Human
597056598GWAS1152672_Hreaction time measurement QTL GWAS1152672 (human)0.000003reaction time measurement69011200890112009Human
628981437GWAS2889666_Heosinophil count QTL GWAS2889666 (human)2e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69025830690258307Human
597066838GWAS1162912_Hautoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease QTL GWAS1162912 (human)0.0000001autoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease69026704990267050Human
597586011GWAS1642871_Hskin neoplasm QTL GWAS1642871 (human)7e-25skin neoplasm69026704990267050Human
597982307GWAS1701606_Hobsolete_thyroid peroxidase antibody measurement QTL GWAS1701606 (human)0.000001obsolete_thyroid peroxidase antibody measurement69024851290248513Human
628607677GWAS2515906_HGraves disease QTL GWAS2515906 (human)7e-09Graves disease69027940690279407Human
597031007GWAS1127081_Hbasal cell carcinoma QTL GWAS1127081 (human)7e-20basal cell carcinoma69029602490296025Human
628908720GWAS2816949_HCleft palate, cleft lip QTL GWAS2816949 (human)3e-08Cleft palate, cleft lip69015113790151138Human
628427448GWAS2335677_Heosinophil count QTL GWAS2335677 (human)1e-88eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)69024669090246691Human
597029979GWAS1126053_Hkeratinocyte carcinoma QTL GWAS1126053 (human)1e-20lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69026704990267050Human
628546233GWAS2454462_Hsaturated fatty acids measurement QTL GWAS2454462 (human)5e-10fatty acid amount (VT:0010046)69025761890257619Human
407192468GWAS841444_Hresponse to cisplatin QTL GWAS841444 (human)0.0000007response to cisplatin69002518990025190Human
407192471GWAS841447_Hresponse to cisplatin QTL GWAS841447 (human)4e-08response to cisplatin69002518990025190Human
597045316GWAS1141390_Hcutaneous melanoma QTL GWAS1141390 (human)4e-09cutaneous melanoma69029602490296025Human
628718250GWAS2626479_Hlevel of T-cell surface glycoprotein CD1c in blood serum QTL GWAS2626479 (human)2e-53level of T-cell surface glycoprotein CD1c in blood serum69023875790238758Human
597583946GWAS1640806_Hmean corpuscular volume QTL GWAS1640806 (human)1e-18mean corpuscular volume69027696790276968Human
597281870GWAS1377944_Hhypothyroidism QTL GWAS1377944 (human)2e-43hypothyroidism69027940690279407Human
407039903GWAS688879_Hceliac disease QTL GWAS688879 (human)2e-08intestine integrity trait (VT:0010554)69017031690170317Human
597164101GWAS1260175_HHashimoto's thyroiditis QTL GWAS1260175 (human)2e-09Hashimoto's thyroiditis69027940690279407Human
597110856GWAS1206930_HThyroid preparation use measurement QTL GWAS1206930 (human)1e-39Thyroid preparation use measurement69027940690279407Human
597611644GWAS1668504_Hplatelet count QTL GWAS1668504 (human)4e-11platelet count69010915590109156Human
628959903GWAS2868132_Hmean corpuscular hemoglobin concentration QTL GWAS2868132 (human)7e-17erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)69027696790276968Human
628969118GWAS2877347_Hthyroid disease QTL GWAS2877347 (human)1e-22thyroid disease69027940690279407Human
597064816GWAS1160890_Hceliac disease QTL GWAS1160890 (human)0.0000003intestine integrity trait (VT:0010554)69009992090099921Human
597614712GWAS1671572_Hactinic keratosis QTL GWAS1671572 (human)8e-15actinic keratosis69024152090241521Human
616496982GWAS1893565_Hlymphocyte amount QTL GWAS1893565 (human)6e-12lymphocyte amount69029602490296025Human
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human
628462233GWAS2370462_Hasthma, age at onset QTL GWAS2370462 (human)0.0000003asthma, age at onset69026689090266891Human
597346423GWAS1442497_Heosinophil measurement QTL GWAS1442497 (human)2e-09eosinophil measurement69024152090241521Human
407026604GWAS675580_Hserum IgG glycosylation measurement QTL GWAS675580 (human)0.000005serum IgG glycosylation measurement68994806489948065Human
598018122GWAS1737421_Hmyeloid leukocyte count QTL GWAS1737421 (human)1e-26myeloid leukocyte count69028663090286631Human
597597293GWAS1654153_Hlymphocyte count QTL GWAS1654153 (human)5e-28lymphocyte count69026704990267050Human
407215027GWAS864003_HNasal Cavity Polyp QTL GWAS864003 (human)1e-17Nasal Cavity Polyp69024627690246277Human
597070945GWAS1167019_Hrheumatoid arthritis QTL GWAS1167019 (human)0.0000008rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement69026704990267050Human
407109560GWAS758536_Hneutrophil count QTL GWAS758536 (human)2e-11neutrophil count69023676090236761Human
407025599GWAS674575_Hceliac disease QTL GWAS674575 (human)4e-10intestine integrity trait (VT:0010554)69021689390216894Human
597380196GWAS1476270_Hlymphocyte count QTL GWAS1476270 (human)4e-10lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)69021800990218010Human
407123899GWAS772875_Hsaturated fatty acids measurement QTL GWAS772875 (human)5e-10saturated fatty acids measurement 69025761890257619Human

Markers in Region
D6S462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,928,591 - 90,928,875UniSTSGRCh37
GRCh37690,928,586 - 90,928,727UniSTSGRCh37
Build 36690,985,312 - 90,985,596RGDNCBI36
Celera691,349,110 - 91,349,394RGD
Celera691,349,105 - 91,349,246UniSTS
Cytogenetic Map6q15UniSTS
HuRef688,147,758 - 88,148,042UniSTS
HuRef688,147,753 - 88,147,894UniSTS
Marshfield Genetic Map699.01UniSTS
Marshfield Genetic Map699.01RGD
Genethon Genetic Map699.0UniSTS
TNG Radiation Hybrid Map644205.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map64228.0UniSTS
G17078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,690,750 - 90,690,855UniSTSGRCh37
Build 36690,747,471 - 90,747,576RGDNCBI36
Celera691,111,277 - 91,111,382RGD
Cytogenetic Map6q15UniSTS
HuRef687,909,904 - 87,910,009UniSTS
A008R03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,637,962 - 90,638,155UniSTSGRCh37
Build 36690,694,683 - 90,694,876RGDNCBI36
Celera691,058,506 - 91,058,699RGD
Cytogenetic Map6q15UniSTS
HuRef687,857,295 - 87,857,488UniSTS
GeneMap99-GB4 RH Map6395.78UniSTS
RH37451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,808,894 - 90,809,079UniSTSGRCh37
Build 36690,865,615 - 90,865,800RGDNCBI36
Celera691,229,419 - 91,229,604RGD
Cytogenetic Map6q15UniSTS
HuRef688,028,077 - 88,028,262UniSTS
GeneMap99-GB4 RH Map6397.45UniSTS
SGC34793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,711,096 - 90,711,238UniSTSGRCh37
Build 36690,767,817 - 90,767,959RGDNCBI36
Celera691,131,620 - 91,131,762RGD
Cytogenetic Map6q15UniSTS
HuRef687,930,254 - 87,930,396UniSTS
GeneMap99-GB4 RH Map6386.33UniSTS
Whitehead-RH Map6596.7UniSTS
RH103117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,636,278 - 90,636,475UniSTSGRCh37
Build 36690,692,999 - 90,693,196RGDNCBI36
Celera691,056,822 - 91,057,019RGD
Cytogenetic Map6q15UniSTS
HuRef687,855,611 - 87,855,808UniSTS
GeneMap99-GB4 RH Map6395.89UniSTS
RH104070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,960,083 - 90,960,210UniSTSGRCh37
Build 36691,016,804 - 91,016,931RGDNCBI36
Celera691,380,600 - 91,380,727RGD
Cytogenetic Map6q15UniSTS
HuRef688,179,245 - 88,179,372UniSTS
GeneMap99-GB4 RH Map6410.13UniSTS
RH119295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,795,062 - 90,795,343UniSTSGRCh37
Build 36690,851,783 - 90,852,064RGDNCBI36
Celera691,215,582 - 91,215,863RGD
Cytogenetic Map6q15UniSTS
HuRef688,014,225 - 88,014,506UniSTS
RH123573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,947,404 - 90,947,710UniSTSGRCh37
Build 36691,004,125 - 91,004,431RGDNCBI36
Celera691,367,921 - 91,368,227RGD
Cytogenetic Map6q15UniSTS
HuRef688,166,566 - 88,166,872UniSTS
TNG Radiation Hybrid Map644230.0UniSTS
RH123580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37691,003,360 - 91,003,645UniSTSGRCh37
Build 36691,060,081 - 91,060,366RGDNCBI36
Celera691,423,877 - 91,424,162RGD
Cytogenetic Map6q15UniSTS
HuRef688,222,521 - 88,222,806UniSTS
TNG Radiation Hybrid Map644252.0UniSTS
D6S366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,812,441 - 90,812,593UniSTSGRCh37
Build 36690,869,162 - 90,869,314RGDNCBI36
Celera691,232,968 - 91,233,114RGD
Cytogenetic Map6q15UniSTS
HuRef688,031,624 - 88,031,770UniSTS
D6S1351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,758,156 - 90,758,264UniSTSGRCh37
Build 36690,814,877 - 90,814,985RGDNCBI36
Celera691,178,676 - 91,178,784RGD
Cytogenetic Map6q15UniSTS
HuRef687,977,320 - 87,977,428UniSTS
SHGC-146246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,643,981 - 90,644,096UniSTSGRCh37
Build 36690,700,702 - 90,700,817RGDNCBI36
Celera691,064,520 - 91,064,635RGD
Cytogenetic Map6q15UniSTS
HuRef687,863,310 - 87,863,425UniSTS
G17026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,748,783 - 90,748,923UniSTSGRCh37
Build 36690,805,504 - 90,805,644RGDNCBI36
Celera691,169,303 - 91,169,443RGD
Cytogenetic Map6q15UniSTS
HuRef687,967,937 - 87,968,077UniSTS
SHGC-34604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,381 - 90,907,505UniSTSGRCh37
Build 36690,964,102 - 90,964,226RGDNCBI36
Celera691,327,901 - 91,328,025RGD
Cytogenetic Map6q15UniSTS
HuRef688,126,549 - 88,126,673UniSTS
Stanford-G3 RH Map63922.0UniSTS
GeneMap99-GB4 RH Map6412.67UniSTS
Whitehead-RH Map6599.2UniSTS
NCBI RH Map61282.0UniSTS
GeneMap99-G3 RH Map64228.0UniSTS
D6S1506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,804,156 - 90,804,305UniSTSGRCh37
Build 36690,860,877 - 90,861,026RGDNCBI36
Celera691,224,679 - 91,224,828RGD
Cytogenetic Map6q15UniSTS
HuRef688,023,340 - 88,023,489UniSTS
Whitehead-RH Map6568.5UniSTS
Whitehead-YAC Contig Map6 UniSTS
A009Y20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,243 - 90,907,426UniSTSGRCh37
Build 36690,963,964 - 90,964,147RGDNCBI36
Celera691,327,763 - 91,327,946RGD
Cytogenetic Map6q15UniSTS
HuRef688,126,411 - 88,126,594UniSTS
GeneMap99-GB4 RH Map6397.55UniSTS
RH16500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,282 - 90,907,421UniSTSGRCh37
Build 36690,964,003 - 90,964,142RGDNCBI36
Celera691,327,802 - 91,327,941RGD
Cytogenetic Map6q15UniSTS
HuRef688,126,450 - 88,126,589UniSTS
GeneMap99-GB4 RH Map6397.45UniSTS
RH65350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,846,729 - 90,846,860UniSTSGRCh37
Build 36690,903,450 - 90,903,581RGDNCBI36
Celera691,267,251 - 91,267,382RGD
Cytogenetic Map6q15UniSTS
HuRef688,065,899 - 88,066,030UniSTS
GeneMap99-GB4 RH Map6397.55UniSTS
BACH2_4426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,636,238 - 90,637,089UniSTSGRCh37
Build 36690,692,959 - 90,693,810RGDNCBI36
Celera691,056,782 - 91,057,633RGD
HuRef687,855,571 - 87,856,422UniSTS
G32982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,907,243 - 90,907,426UniSTSGRCh37
Celera691,327,763 - 91,327,946UniSTS
Cytogenetic Map6q15UniSTS
HuRef688,126,411 - 88,126,594UniSTS
D6S462  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q15UniSTS
TNG Radiation Hybrid Map644205.0UniSTS
GeneMap99-G3 RH Map64228.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2378 2788 2245 4942 1716 2331 4 616 1851 458 2265 7128 6353 44 3711 831 1723 1605 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001170794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA885077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF357835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI524722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN261405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB077323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB240991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE578176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000257749   ⟹   ENSP00000257749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,926,528 - 90,296,843 (-)Ensembl
Ensembl Acc Id: ENST00000343122   ⟹   ENSP00000345642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,931,485 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000406998   ⟹   ENSP00000384145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,931,424 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000453877   ⟹   ENSP00000397668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,932,408 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000470301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,088,958 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000472023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,089,066 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000481150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,008,090 - 90,008,827 (-)Ensembl
Ensembl Acc Id: ENST00000493201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,089,054 - 90,218,245 (-)Ensembl
Ensembl Acc Id: ENST00000494747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,104,365 - 90,296,742 (-)Ensembl
Ensembl Acc Id: ENST00000537989   ⟹   ENSP00000437473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,926,529 - 90,296,908 (-)Ensembl
Ensembl Acc Id: ENST00000695952   ⟹   ENSP00000512284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,932,408 - 90,206,689 (-)Ensembl
Ensembl Acc Id: ENST00000695953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,950,156 - 90,296,747 (-)Ensembl
Ensembl Acc Id: ENST00000695954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,975,550 - 90,062,963 (-)Ensembl
Ensembl Acc Id: ENST00000695955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl690,172,683 - 90,219,750 (-)Ensembl
Ensembl Acc Id: ENST00000931217   ⟹   ENSP00000601276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,930,229 - 90,296,923 (-)Ensembl
Ensembl Acc Id: ENST00000931218   ⟹   ENSP00000601277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,930,229 - 90,296,814 (-)Ensembl
Ensembl Acc Id: ENST00000968922   ⟹   ENSP00000638981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,930,258 - 90,278,276 (-)Ensembl
RefSeq Acc Id: NM_001170794   ⟹   NP_001164265
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38689,926,528 - 90,296,843 (-)NCBI
GRCh37690,636,247 - 91,006,627 (-)NCBI
HuRef687,855,580 - 88,225,476 (-)ENTREZGENE
CHM1_1690,733,911 - 91,104,124 (-)NCBI
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021813   ⟹   NP_068585
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38689,926,528 - 90,296,843 (-)NCBI
GRCh37690,636,247 - 91,006,627 (-)ENTREZGENE
GRCh37690,636,247 - 91,006,627 (-)NCBI
Build 36690,692,969 - 91,063,182 (-)NCBI Archive
HuRef687,855,580 - 88,225,476 (-)ENTREZGENE
CHM1_1690,733,911 - 91,104,124 (-)NCBI
T2T-CHM13v2.0691,138,217 - 91,508,429 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001164265 (Get FASTA)   NCBI Sequence Viewer  
  NP_068585 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK48898 (Get FASTA)   NCBI Sequence Viewer  
  BAD92126 (Get FASTA)   NCBI Sequence Viewer  
  CAC28130 (Get FASTA)   NCBI Sequence Viewer  
  CBX47436 (Get FASTA)   NCBI Sequence Viewer  
  CCD17752 (Get FASTA)   NCBI Sequence Viewer  
  CCD17753 (Get FASTA)   NCBI Sequence Viewer  
  CCD17754 (Get FASTA)   NCBI Sequence Viewer  
  CCD17755 (Get FASTA)   NCBI Sequence Viewer  
  CCD17756 (Get FASTA)   NCBI Sequence Viewer  
  CCD17757 (Get FASTA)   NCBI Sequence Viewer  
  CCD17758 (Get FASTA)   NCBI Sequence Viewer  
  CCD17759 (Get FASTA)   NCBI Sequence Viewer  
  CCD17760 (Get FASTA)   NCBI Sequence Viewer  
  CCD17761 (Get FASTA)   NCBI Sequence Viewer  
  CCD17762 (Get FASTA)   NCBI Sequence Viewer  
  CCD17763 (Get FASTA)   NCBI Sequence Viewer  
  CCD17764 (Get FASTA)   NCBI Sequence Viewer  
  CCD17765 (Get FASTA)   NCBI Sequence Viewer  
  EAW48530 (Get FASTA)   NCBI Sequence Viewer  
  EAW48531 (Get FASTA)   NCBI Sequence Viewer  
  EAW48532 (Get FASTA)   NCBI Sequence Viewer  
  EAW48533 (Get FASTA)   NCBI Sequence Viewer  
  EAW48534 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000257749
  ENSP00000257749.4
  ENSP00000345642.3
  ENSP00000384145
  ENSP00000384145.3
  ENSP00000397668.2
  ENSP00000512284.1
GenBank Protein Q9BYV9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001164265   ⟸   NM_001170794
- UniProtKB: Q5T793 (UniProtKB/Swiss-Prot),   Q59H70 (UniProtKB/Swiss-Prot),   E1P518 (UniProtKB/Swiss-Prot),   Q9NTS5 (UniProtKB/Swiss-Prot),   Q9BYV9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_068585   ⟸   NM_021813
- UniProtKB: Q5T793 (UniProtKB/Swiss-Prot),   Q59H70 (UniProtKB/Swiss-Prot),   E1P518 (UniProtKB/Swiss-Prot),   Q9NTS5 (UniProtKB/Swiss-Prot),   Q9BYV9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000397668   ⟸   ENST00000453877
Ensembl Acc Id: ENSP00000257749   ⟸   ENST00000257749
Ensembl Acc Id: ENSP00000437473   ⟸   ENST00000537989
Ensembl Acc Id: ENSP00000384145   ⟸   ENST00000406998
Ensembl Acc Id: ENSP00000345642   ⟸   ENST00000343122
Ensembl Acc Id: ENSP00000512284   ⟸   ENST00000695952
Ensembl Acc Id: ENSP00000601277   ⟸   ENST00000931218
Ensembl Acc Id: ENSP00000601276   ⟸   ENST00000931217
Ensembl Acc Id: ENSP00000638981   ⟸   ENST00000968922
Protein Domains
BTB   bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYV9-F1-model_v2 AlphaFold Q9BYV9 1-841 view protein structure

Promoters
RGD ID:7208713
Promoter ID:EPDNEW_H10102
Type:initiation region
Name:BACH2_2
Description:BTB domain and CNC homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10103  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38690,080,927 - 90,080,987EPDNEW
RGD ID:7208715
Promoter ID:EPDNEW_H10103
Type:initiation region
Name:BACH2_1
Description:BTB domain and CNC homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10102  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38690,296,843 - 90,296,903EPDNEW
RGD ID:6803778
Promoter ID:HG_KWN:54366
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000041528
Position:
Human AssemblyChrPosition (strand)Source
Build 36690,774,881 - 90,775,381 (-)MPROMDB
RGD ID:6804016
Promoter ID:HG_KWN:54367
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour
Transcripts:ENST00000406998
Position:
Human AssemblyChrPosition (strand)Source
Build 36690,847,291 - 90,847,791 (-)MPROMDB
RGD ID:6803777
Promoter ID:HG_KWN:54368
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000041525
Position:
Human AssemblyChrPosition (strand)Source
Build 36690,984,909 - 90,985,409 (-)MPROMDB
RGD ID:6804017
Promoter ID:HG_KWN:54369
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562
Transcripts:ENST00000343122,   NM_001170794,   NM_021813,   OTTHUMT00000041520,   OTTHUMT00000041521,   OTTHUMT00000041523,   OTTHUMT00000041526,   OTTHUMT00000041527,   UC003PNV.1,   UC010KCH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36691,063,016 - 91,063,516 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14078 AgrOrtholog
COSMIC BACH2 COSMIC
Ensembl Genes ENSG00000112182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257749 ENTREZGENE
  ENST00000257749.9 UniProtKB/Swiss-Prot
  ENST00000343122.7 UniProtKB/Swiss-Prot
  ENST00000406998 ENTREZGENE
  ENST00000406998.7 UniProtKB/Swiss-Prot
  ENST00000453877.6 UniProtKB/Swiss-Prot
  ENST00000695952.1 UniProtKB/Swiss-Prot
Gene3D-CATH Potassium Channel Kv1.1, Chain A UniProtKB/Swiss-Prot
  Transcription factor, Skn-1-like, DNA-binding domain UniProtKB/Swiss-Prot
GTEx ENSG00000112182 GTEx
HGNC ID HGNC:14078 ENTREZGENE
Human Proteome Map BACH2 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  bZIP UniProtKB/Swiss-Prot
  bZIP_BACH UniProtKB/Swiss-Prot
  bZIP_Maf UniProtKB/Swiss-Prot
  bZIP_sf UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  TF_DNA-bd_sf UniProtKB/Swiss-Prot
  ZnFinger_BTB_dom_contain UniProtKB/Swiss-Prot
KEGG Report hsa:60468 UniProtKB/Swiss-Prot
NCBI Gene 60468 ENTREZGENE
OMIM 605394 OMIM
PANTHER AGAP004733-PA UniProtKB/Swiss-Prot
  TRANSCRIPTION REGULATOR PROTEIN BACH2 UniProtKB/Swiss-Prot
Pfam BTB UniProtKB/Swiss-Prot
  bZIP_Maf UniProtKB/Swiss-Prot
PharmGKB PA25235 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot
  BZIP UniProtKB/Swiss-Prot
  BZIP_BASIC UniProtKB/Swiss-Prot
SMART BRLZ UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot
  SSF54695 UniProtKB/Swiss-Prot
  SSF57959 UniProtKB/Swiss-Prot
UniProt BACH2_HUMAN UniProtKB/Swiss-Prot
  E1P518 ENTREZGENE
  Q59H70 ENTREZGENE
  Q5T793 ENTREZGENE
  Q7Z6Q0_HUMAN UniProtKB/TrEMBL
  Q9BYV9 ENTREZGENE
  Q9NTS5 ENTREZGENE
  S0BDY5_HUMAN UniProtKB/TrEMBL
  S0BDY6_HUMAN UniProtKB/TrEMBL
  S0BDZ6_HUMAN UniProtKB/TrEMBL
  S0BDZ7_HUMAN UniProtKB/TrEMBL
  S0BE05_HUMAN UniProtKB/TrEMBL
  S0BE06_HUMAN UniProtKB/TrEMBL
  S0BE24_HUMAN UniProtKB/TrEMBL
  S0BE25_HUMAN UniProtKB/TrEMBL
  S6CM55_HUMAN UniProtKB/TrEMBL
  S6CMK8_HUMAN UniProtKB/TrEMBL
  S6CNF7_HUMAN UniProtKB/TrEMBL
UniProt Secondary E1P518 UniProtKB/Swiss-Prot
  Q59H70 UniProtKB/Swiss-Prot
  Q5T793 UniProtKB/Swiss-Prot
  Q9NTS5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 BACH2  BTB domain and CNC homolog 2    BTB and CNC homology 1, basic leucine zipper transcription factor 2  Symbol and/or name change 5135510 APPROVED