LRMDA (leucine rich melanocyte differentiation associated) - Rat Genome Database

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Gene: LRMDA (leucine rich melanocyte differentiation associated) Homo sapiens
Analyze
Symbol: LRMDA
Name: leucine rich melanocyte differentiation associated
RGD ID: 1321229
HGNC Page HGNC:23405
Description: Involved in melanocyte differentiation. Implicated in oculocutaneous albinism type VII.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C10orf11; CDA017; chromosome 10 open reading frame 11; leucine-rich repeat-containing protein C10orf11; OCA5; OCA7; oculocutaneous albinism 7, autosomal recessive
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh381075,431,624 - 76,560,168 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1075,431,624 - 76,560,168 (+)EnsemblGRCh38hg38GRCh38
GRCh371077,191,382 - 78,319,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361077,212,525 - 77,987,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 341077,212,524 - 77,987,130NCBI
Celera1070,831,521 - 71,605,978 (+)NCBICelera
Cytogenetic Map10q22.2-q22.3NCBI
HuRef1071,540,196 - 72,314,718 (+)NCBIHuRef
CHM1_11077,824,689 - 78,599,701 (+)NCBICHM1_1
T2T-CHM13v2.01076,305,674 - 77,428,762 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:14702039   PMID:16385451   PMID:16964243   PMID:19844253   PMID:19901119   PMID:20379614   PMID:21873635   PMID:21946350   PMID:22180457   PMID:23284291   PMID:23395477  
PMID:23568457   PMID:23932459   PMID:31586073   PMID:32296183   PMID:35575683   PMID:37053367   PMID:38117590  


Genomics

Comparative Map Data
LRMDA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381075,431,624 - 76,560,168 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1075,431,624 - 76,560,168 (+)EnsemblGRCh38hg38GRCh38
GRCh371077,191,382 - 78,319,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361077,212,525 - 77,987,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 341077,212,524 - 77,987,130NCBI
Celera1070,831,521 - 71,605,978 (+)NCBICelera
Cytogenetic Map10q22.2-q22.3NCBI
HuRef1071,540,196 - 72,314,718 (+)NCBIHuRef
CHM1_11077,824,689 - 78,599,701 (+)NCBICHM1_1
T2T-CHM13v2.01076,305,674 - 77,428,762 (+)NCBIT2T-CHM13v2.0
Lrmda
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391422,069,567 - 23,106,161 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1422,069,780 - 23,106,153 (+)EnsemblGRCm39 Ensembl
GRCm381422,019,504 - 23,056,093 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1422,019,712 - 23,056,085 (+)EnsemblGRCm38mm10GRCm38
MGSCv371422,838,934 - 23,875,310 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361420,808,264 - 21,844,637 (+)NCBIMGSCv36mm8
Celera1418,400,891 - 19,435,571 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1412.03NCBI
Lrmda
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8151,275,139 - 2,334,153 (-)NCBIGRCr8
mRatBN7.2151,223,098 - 2,284,764 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl151,225,710 - 2,284,749 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx151,232,699 - 2,292,182 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0152,619,324 - 3,678,610 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0151,231,451 - 2,290,959 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0151,269,869 - 2,346,246 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0151,252,267 - 2,328,752 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4151,191,953 - 2,324,521 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera152,295,853 - 3,337,686 (+)NCBICelera
Cytogenetic Map15p16NCBI
Lrmda
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543715,678,397 - 16,173,214 (-)NCBIChiLan1.0ChiLan1.0
LRMDA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2887,574,802 - 88,712,386 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11087,591,299 - 88,715,871 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01071,957,984 - 73,085,285 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11074,974,055 - 75,747,123 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1074,630,828 - 75,747,045 (+)Ensemblpanpan1.1panPan2
LRMDA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1425,610,656 - 26,636,351 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl425,610,174 - 26,633,127 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha425,745,268 - 26,759,681 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0425,893,144 - 26,914,311 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl425,867,243 - 26,914,274 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1425,796,333 - 26,809,674 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0425,988,655 - 27,009,195 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0426,345,031 - 27,359,889 (+)NCBIUU_Cfam_GSD_1.0
Lrmda
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721354,465,289 - 55,453,463 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365212,959,844 - 3,946,191 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365212,959,770 - 3,637,431 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRMDA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1477,957,851 - 79,051,455 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11477,957,833 - 79,051,540 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21484,055,057 - 84,380,892 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRMDA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1954,838,434 - 55,976,189 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604815,279,112 - 16,433,660 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrmda
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247548,781,687 - 9,892,041 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247548,781,356 - 9,892,121 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRMDA
181 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) single nucleotide variant Oculocutaneous albinism type 7 [RCV000034833]|not provided [RCV001699103] Chr10:76557271 [GRCh38]
Chr10:78317029 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) duplication LRMDA-related disorder [RCV003974869]|Oculocutaneous albinism type 7 [RCV000034834]|not provided [RCV001564665] Chr10:76036025..76036026 [GRCh38]
Chr10:77795783..77795784 [GRCh37]
Chr10:10q22.3
pathogenic
NC_000010.11:g.75712029C>G single nucleotide variant Lung cancer [RCV000109337] Chr10:75712029 [GRCh38]
Chr10:77471787 [GRCh37]
Chr10:10q22.2
uncertain significance
NM_032024.4(C10orf11):c.47+69487G>T single nucleotide variant Lung cancer [RCV000109339] Chr10:75852509 [GRCh38]
Chr10:77612267 [GRCh37]
Chr10:10q22.2
uncertain significance
NM_032024.4(C10orf11):c.48-58482T>G single nucleotide variant Lung cancer [RCV000109340] Chr10:75977526 [GRCh38]
Chr10:77737284 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_032024.4(C10orf11):c.432+70491C>A single nucleotide variant Lung cancer [RCV000109341] Chr10:76129274 [GRCh38]
Chr10:77889032 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_032024.4(C10orf11):c.432+71979C>A single nucleotide variant Lung cancer [RCV000109342] Chr10:76130762 [GRCh38]
Chr10:77890520 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_032024.4(C10orf11):c.433-97465C>T single nucleotide variant Lung cancer [RCV000109343] Chr10:76226936 [GRCh38]
Chr10:77986694 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_032024.4(C10orf11):c.433-51796C>T single nucleotide variant Lung cancer [RCV000109344] Chr10:76272605 [GRCh38]
Chr10:78032363 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_032024.4(C10orf11):c.433-24451C>G single nucleotide variant Lung cancer [RCV000109345] Chr10:76299950 [GRCh38]
Chr10:78059708 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_032024.4(C10orf11):c.517+77620G>T single nucleotide variant Lung cancer [RCV000109346] Chr10:76402105 [GRCh38]
Chr10:78161863 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q22.3(chr10:76036348-76702491)x1 copy number loss See cases [RCV000141451] Chr10:76036348..76702491 [GRCh38]
Chr10:77796106..78462249 [GRCh37]
Chr10:77466112..78132255 [NCBI36]
Chr10:10q22.3
uncertain significance
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 copy number loss See cases [RCV000052531] Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2
pathogenic
NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys) single nucleotide variant Oculocutaneous albinism type 7 [RCV000234797] Chr10:76047256 [GRCh38]
Chr10:77807014 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001305581.2(LRMDA):c.611G>A (p.Gly204Glu) single nucleotide variant not provided [RCV000947263]|not specified [RCV000243603] Chr10:76557218 [GRCh38]
Chr10:78316976 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.364T>C (p.Leu122=) single nucleotide variant Oculocutaneous albinism type 7 [RCV001554493]|not provided [RCV001538642]|not specified [RCV000248659] Chr10:76047269 [GRCh38]
Chr10:77807027 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.336C>T (p.Asn112=) single nucleotide variant not provided [RCV002229699]|not specified [RCV000243940] Chr10:76047241 [GRCh38]
Chr10:77806999 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001305581.2(LRMDA):c.542C>T (p.Ser181Phe) single nucleotide variant not provided [RCV002229700]|not specified [RCV000251801] Chr10:76324426 [GRCh38]
Chr10:78084184 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.132-253012del deletion not provided [RCV000724207]|not specified [RCV000252139] Chr10:75782996 [GRCh38]
Chr10:77542754 [GRCh37]
Chr10:10q22.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001305581.2(LRMDA):c.228A>G (p.Arg76=) single nucleotide variant not provided [RCV002229698]|not specified [RCV000247385] Chr10:76036104 [GRCh38]
Chr10:77795862 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) single nucleotide variant Oculocutaneous albinism type 7 [RCV000625427]|not provided [RCV000732831]|not specified [RCV000242613] Chr10:76036069 [GRCh38]
Chr10:77795827 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001305581.2(LRMDA):c.256C>T (p.Arg86Ter) single nucleotide variant not provided [RCV000348104] Chr10:76036132 [GRCh38]
Chr10:77795890 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001305581.2(LRMDA):c.602-8A>T single nucleotide variant not provided [RCV000292820] Chr10:76557201 [GRCh38]
Chr10:78316959 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1 copy number loss See cases [RCV000447510] Chr10:75542067..79428995 [GRCh37]
Chr10:10q22.2-22.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001305581.2(LRMDA):c.222A>G (p.Leu74=) single nucleotide variant not provided [RCV000905545] Chr10:76036098 [GRCh38]
Chr10:77795856 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.477G>A (p.Ala159=) single nucleotide variant LRMDA-related disorder [RCV003958028]|not provided [RCV000895513] Chr10:76058744 [GRCh38]
Chr10:77818502 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_001305581.2(LRMDA):c.132-253008G>A single nucleotide variant not provided [RCV003104382] Chr10:75783000 [GRCh38]
Chr10:77542758 [GRCh37]
Chr10:10q22.2
uncertain significance
NM_001305581.2(LRMDA):c.480G>T (p.Leu160Phe) single nucleotide variant LRMDA-related disorder [RCV003940674]|not provided [RCV000890806] Chr10:76058747 [GRCh38]
Chr10:77818505 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.516+53C>T single nucleotide variant Oculocutaneous albinism type 7 [RCV001554495]|not provided [RCV004718932] Chr10:76058836 [GRCh38]
Chr10:77818594 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.216A>G (p.Pro72=) single nucleotide variant not provided [RCV003106573] Chr10:76036092 [GRCh38]
Chr10:77795850 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.159G>A (p.Arg53=) single nucleotide variant not provided [RCV001699619] Chr10:76036035 [GRCh38]
Chr10:77795793 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.398+31A>C single nucleotide variant Oculocutaneous albinism type 7 [RCV001554494]|not provided [RCV004718931] Chr10:76047334 [GRCh38]
Chr10:77807092 [GRCh37]
Chr10:10q22.3
benign
NM_001305581.2(LRMDA):c.583del (p.Glu195fs) deletion not provided [RCV001311712] Chr10:76324465 [GRCh38]
Chr10:78084223 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001305581.2(LRMDA):c.384C>T (p.Asp128=) single nucleotide variant not provided [RCV002239621] Chr10:76047289 [GRCh38]
Chr10:77807047 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.399-18C>G single nucleotide variant not provided [RCV002239622] Chr10:76058648 [GRCh38]
Chr10:77818406 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.132-252969C>T single nucleotide variant not provided [RCV002239000] Chr10:75783039 [GRCh38]
Chr10:77542797 [GRCh37]
Chr10:10q22.2
likely benign
NM_001305581.2(LRMDA):c.342C>A (p.Ala114=) single nucleotide variant not provided [RCV002239004] Chr10:76047247 [GRCh38]
Chr10:77807005 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.545C>T (p.Pro182Leu) single nucleotide variant not provided [RCV002239006] Chr10:76324429 [GRCh38]
Chr10:78084187 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.550C>T (p.Arg184Cys) single nucleotide variant not provided [RCV002239007] Chr10:76324434 [GRCh38]
Chr10:78084192 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.551G>A (p.Arg184His) single nucleotide variant not provided [RCV002239008] Chr10:76324435 [GRCh38]
Chr10:78084193 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.639A>G (p.Lys213=) single nucleotide variant not provided [RCV002239011] Chr10:76557246 [GRCh38]
Chr10:78317004 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.648G>A (p.Glu216=) single nucleotide variant not provided [RCV002239012] Chr10:76557255 [GRCh38]
Chr10:78317013 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.132-253009C>T single nucleotide variant not provided [RCV002238998] Chr10:75782999 [GRCh38]
Chr10:77542757 [GRCh37]
Chr10:10q22.2
benign
NM_001305581.2(LRMDA):c.132-253001A>C single nucleotide variant not provided [RCV002238999] Chr10:75783007 [GRCh38]
Chr10:77542765 [GRCh37]
Chr10:10q22.2
likely benign
NM_001305581.2(LRMDA):c.252G>A (p.Lys84=) single nucleotide variant not provided [RCV002239001] Chr10:76036128 [GRCh38]
Chr10:77795886 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.258+19G>A single nucleotide variant not provided [RCV002239002] Chr10:76036153 [GRCh38]
Chr10:77795911 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.259-11A>G single nucleotide variant not provided [RCV002239003] Chr10:76047153 [GRCh38]
Chr10:77806911 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.531C>T (p.Asp177=) single nucleotide variant not provided [RCV002239005] Chr10:76324415 [GRCh38]
Chr10:78084173 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.601+18T>G single nucleotide variant not provided [RCV002239009] Chr10:76324503 [GRCh38]
Chr10:78084261 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.620G>A (p.Arg207His) single nucleotide variant not provided [RCV002239010] Chr10:76557227 [GRCh38]
Chr10:78316985 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.467G>A (p.Arg156Gln) single nucleotide variant not provided [RCV002239623] Chr10:76058734 [GRCh38]
Chr10:77818492 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.323G>A (p.Ser108Asn) single nucleotide variant not provided [RCV001754272] Chr10:76047228 [GRCh38]
Chr10:77806986 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3
pathogenic
NM_001305581.2(LRMDA):c.592A>G (p.Ser198Gly) single nucleotide variant not provided [RCV003112205] Chr10:76324476 [GRCh38]
Chr10:78084234 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_76349020)_(78317046_?)del deletion Genitopatellar syndrome [RCV003116587] Chr10:76349020..78317046 [GRCh37]
Chr10:10q22.2-22.3
pathogenic
NC_000010.10:g.(?_75671314)_(79799964_?)dup duplication Genitopatellar syndrome [RCV003116588] Chr10:75671314..79799964 [GRCh37]
Chr10:10q22.2-22.3
uncertain significance
NM_001305581.2(LRMDA):c.258+4T>C single nucleotide variant not provided [RCV003120006] Chr10:76036138 [GRCh38]
Chr10:77795896 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.334A>T (p.Asn112Tyr) single nucleotide variant not provided [RCV002842038] Chr10:76047239 [GRCh38]
Chr10:77806997 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.625G>A (p.Val209Ile) single nucleotide variant not provided [RCV002775500] Chr10:76557232 [GRCh38]
Chr10:78316990 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.367_368delinsAT (p.Glu123Ile) indel not provided [RCV002839368] Chr10:76047272..76047273 [GRCh38]
Chr10:77807030..77807031 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.517-5C>A single nucleotide variant not provided [RCV003014429] Chr10:76324396 [GRCh38]
Chr10:78084154 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.398+20A>C single nucleotide variant not provided [RCV002617792] Chr10:76047323 [GRCh38]
Chr10:77807081 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.259-3C>G single nucleotide variant not provided [RCV002908813] Chr10:76047161 [GRCh38]
Chr10:77806919 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.154T>A (p.Phe52Ile) single nucleotide variant not provided [RCV003034329] Chr10:76036030 [GRCh38]
Chr10:77795788 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.463G>A (p.Glu155Lys) single nucleotide variant not provided [RCV002593413] Chr10:76058730 [GRCh38]
Chr10:77818488 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.270G>C (p.Leu90Phe) single nucleotide variant not provided [RCV002825045] Chr10:76047175 [GRCh38]
Chr10:77806933 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.259A>G (p.Ile87Val) single nucleotide variant not provided [RCV003001856] Chr10:76047164 [GRCh38]
Chr10:77806922 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.258+5C>T single nucleotide variant not provided [RCV003035470] Chr10:76036139 [GRCh38]
Chr10:77795897 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.208G>A (p.Val70Met) single nucleotide variant not provided [RCV003052921] Chr10:76036084 [GRCh38]
Chr10:77795842 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.496A>G (p.Met166Val) single nucleotide variant not provided [RCV002621974] Chr10:76058763 [GRCh38]
Chr10:77818521 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.398+1G>C single nucleotide variant not provided [RCV003019360] Chr10:76047304 [GRCh38]
Chr10:77807062 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001305581.2(LRMDA):c.516+8G>T single nucleotide variant not provided [RCV002736169] Chr10:76058791 [GRCh38]
Chr10:77818549 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.516+12A>G single nucleotide variant not provided [RCV002876787] Chr10:76058795 [GRCh38]
Chr10:77818553 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.237C>T (p.Thr79=) single nucleotide variant not provided [RCV002766004] Chr10:76036113 [GRCh38]
Chr10:77795871 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.386A>G (p.Tyr129Cys) single nucleotide variant Inborn genetic diseases [RCV004065572]|not provided [RCV002597231] Chr10:76047291 [GRCh38]
Chr10:77807049 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.191A>C (p.Gln64Pro) single nucleotide variant not provided [RCV002710808] Chr10:76036067 [GRCh38]
Chr10:77795825 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.206T>G (p.Leu69Arg) single nucleotide variant not provided [RCV003040035] Chr10:76036082 [GRCh38]
Chr10:77795840 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.561G>A (p.Thr187=) single nucleotide variant not provided [RCV002574388] Chr10:76324445 [GRCh38]
Chr10:78084203 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.249C>A (p.Asn83Lys) single nucleotide variant not provided [RCV002711913] Chr10:76036125 [GRCh38]
Chr10:77795883 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.617G>A (p.Cys206Tyr) single nucleotide variant not provided [RCV003022635] Chr10:76557224 [GRCh38]
Chr10:78316982 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.444C>T (p.Ala148=) single nucleotide variant not provided [RCV002627139] Chr10:76058711 [GRCh38]
Chr10:77818469 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.655A>G (p.Arg219Gly) single nucleotide variant not provided [RCV003057554] Chr10:76557262 [GRCh38]
Chr10:78317020 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.236C>T (p.Thr79Ile) single nucleotide variant not provided [RCV002891122] Chr10:76036112 [GRCh38]
Chr10:77795870 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.253A>G (p.Asn85Asp) single nucleotide variant not provided [RCV002711914] Chr10:76036129 [GRCh38]
Chr10:77795887 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.351C>G (p.Asn117Lys) single nucleotide variant not provided [RCV002915070] Chr10:76047256 [GRCh38]
Chr10:77807014 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.258+13C>T single nucleotide variant not provided [RCV002720548] Chr10:76036147 [GRCh38]
Chr10:77795905 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.504G>A (p.Val168=) single nucleotide variant not provided [RCV002649852] Chr10:76058771 [GRCh38]
Chr10:77818529 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.612G>A (p.Gly204=) single nucleotide variant not provided [RCV002577471] Chr10:76557219 [GRCh38]
Chr10:78316977 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.158G>C (p.Arg53Thr) single nucleotide variant not provided [RCV002857379] Chr10:76036034 [GRCh38]
Chr10:77795792 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.585A>G (p.Glu195=) single nucleotide variant not provided [RCV002962651] Chr10:76324469 [GRCh38]
Chr10:78084227 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.512C>T (p.Pro171Leu) single nucleotide variant not provided [RCV002646305] Chr10:76058779 [GRCh38]
Chr10:77818537 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.517-20A>C single nucleotide variant not provided [RCV002934008] Chr10:76324381 [GRCh38]
Chr10:78084139 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.624C>A (p.Tyr208Ter) single nucleotide variant not provided [RCV002806768] Chr10:76557231 [GRCh38]
Chr10:78316989 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001305581.2(LRMDA):c.507G>A (p.Val169=) single nucleotide variant not provided [RCV002631909] Chr10:76058774 [GRCh38]
Chr10:77818532 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.560C>T (p.Thr187Met) single nucleotide variant not provided [RCV002601797] Chr10:76324444 [GRCh38]
Chr10:78084202 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.438G>A (p.Leu146=) single nucleotide variant not provided [RCV002631448] Chr10:76058705 [GRCh38]
Chr10:77818463 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.497T>C (p.Met166Thr) single nucleotide variant Inborn genetic diseases [RCV004071640]|not provided [RCV003065702] Chr10:76058764 [GRCh38]
Chr10:77818522 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.178T>C (p.Leu60=) single nucleotide variant not provided [RCV003061922] Chr10:76036054 [GRCh38]
Chr10:77795812 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.620dup (p.Tyr208fs) duplication not provided [RCV002578951] Chr10:76557226..76557227 [GRCh38]
Chr10:78316984..78316985 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001305581.2(LRMDA):c.546G>A (p.Pro182=) single nucleotide variant not provided [RCV002580801] Chr10:76324430 [GRCh38]
Chr10:78084188 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.258+16C>T single nucleotide variant not provided [RCV002658370] Chr10:76036150 [GRCh38]
Chr10:77795908 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.601+11A>T single nucleotide variant not provided [RCV002585729] Chr10:76324496 [GRCh38]
Chr10:78084254 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.132-253022A>G single nucleotide variant not provided [RCV002609532] Chr10:75782986 [GRCh38]
Chr10:77542744 [GRCh37]
Chr10:10q22.2
uncertain significance
NM_001305581.2(LRMDA):c.229C>G (p.Leu77Val) single nucleotide variant Inborn genetic diseases [RCV004065880]|not provided [RCV002609782] Chr10:76036105 [GRCh38]
Chr10:77795863 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.570T>C (p.Pro190=) single nucleotide variant not provided [RCV002604450] Chr10:76324454 [GRCh38]
Chr10:78084212 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.258+19G>T single nucleotide variant not provided [RCV002590146] Chr10:76036153 [GRCh38]
Chr10:77795911 [GRCh37]
Chr10:10q22.3
likely benign
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_001305581.2(LRMDA):c.507G>T (p.Val169=) single nucleotide variant not provided [RCV003829766] Chr10:76058774 [GRCh38]
Chr10:77818532 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.231G>A (p.Leu77=) single nucleotide variant not provided [RCV003578652] Chr10:76036107 [GRCh38]
Chr10:77795865 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.351C>T (p.Asn117=) single nucleotide variant not provided [RCV003739489] Chr10:76047256 [GRCh38]
Chr10:77807014 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.327G>T (p.Leu109=) single nucleotide variant not provided [RCV003695359] Chr10:76047232 [GRCh38]
Chr10:77806990 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.399-8T>A single nucleotide variant not provided [RCV003825213] Chr10:76058658 [GRCh38]
Chr10:77818416 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.675G>A (p.Gln225=) single nucleotide variant not provided [RCV003665318] Chr10:76557282 [GRCh38]
Chr10:78317040 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.398+2_398+13del deletion not provided [RCV003702014] Chr10:76047301..76047312 [GRCh38]
Chr10:77807059..77807070 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001305581.2(LRMDA):c.516+19G>A single nucleotide variant not provided [RCV003855034] Chr10:76058802 [GRCh38]
Chr10:77818560 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.602-10T>G single nucleotide variant not provided [RCV003861184] Chr10:76557199 [GRCh38]
Chr10:78316957 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.657G>A (p.Arg219=) single nucleotide variant not provided [RCV003705827] Chr10:76557264 [GRCh38]
Chr10:78317022 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.399-20C>T single nucleotide variant not provided [RCV003679671] Chr10:76058646 [GRCh38]
Chr10:77818404 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.399-12C>A single nucleotide variant not provided [RCV003674615] Chr10:76058654 [GRCh38]
Chr10:77818412 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.594T>C (p.Ser198=) single nucleotide variant not provided [RCV003729959] Chr10:76324478 [GRCh38]
Chr10:78084236 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.124C>T (p.Leu42Phe) single nucleotide variant LRMDA-related disorder [RCV003904200] Chr10:75438487 [GRCh38]
Chr10:77198245 [GRCh37]
Chr10:10q22.2
benign
NC_000010.10:g.(?_77795746)_(77818561_?)del deletion not provided [RCV004581780] Chr10:77795746..77818561 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001305581.2(LRMDA):c.661dup (p.Ile221fs) duplication not provided [RCV005170101] Chr10:76557267..76557268 [GRCh38]
Chr10:78317025..78317026 [GRCh37]
Chr10:10q22.3
pathogenic
NM_001305581.2(LRMDA):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV005070543] Chr10:76557279 [GRCh38]
Chr10:78317037 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.258+16C>G single nucleotide variant not provided [RCV005158767] Chr10:76036150 [GRCh38]
Chr10:77795908 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.642C>T (p.Asn214=) single nucleotide variant not provided [RCV005074273] Chr10:76557249 [GRCh38]
Chr10:78317007 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.259-2del deletion not provided [RCV005186220] Chr10:76047162 [GRCh38]
Chr10:77806920 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_001305581.2(LRMDA):c.624C>T (p.Tyr208=) single nucleotide variant not provided [RCV005188540] Chr10:76557231 [GRCh38]
Chr10:78316989 [GRCh37]
Chr10:10q22.3
likely benign
NM_001305581.2(LRMDA):c.181G>A (p.Asp61Asn) single nucleotide variant not provided [RCV005182164] Chr10:76036057 [GRCh38]
Chr10:77795815 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_001305581.2(LRMDA):c.132-8C>G single nucleotide variant not provided [RCV005205142] Chr10:76036000 [GRCh38]
Chr10:77795758 [GRCh37]
Chr10:10q22.3
likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3646
Count of miRNA genes:1026
Interacting mature miRNAs:1235
Transcripts:ENST00000372499, ENST00000468134, ENST00000483375, ENST00000488655, ENST00000488759, ENST00000493194, ENST00000493690, ENST00000496424, ENST00000593699, ENST00000593817, ENST00000595936, ENST00000596228, ENST00000597823, ENST00000598708
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
597615518GWAS1672378_Hprostate specific antigen amount QTL GWAS1672378 (human)4e-11prostate specific antigen amount107627756476277565Human
597073814GWAS1169888_Hosteosarcoma, overall survival QTL GWAS1169888 (human)0.000004osteosarcoma, overall survival107642811476428115Human
597291933GWAS1388007_Hbody mass index QTL GWAS1388007 (human)5e-09body mass indexbody mass index (BMI) (CMO:0000105)107586673075866731Human
597295772GWAS1391846_Hphosphatidylcholine measurement QTL GWAS1391846 (human)4e-08phosphatidylcholine measurement107638722876387229Human
597099408GWAS1195482_Htype 2 diabetes mellitus QTL GWAS1195482 (human)2e-10type 2 diabetes mellitus107555485975554860Human
597171090GWAS1267164_HQRS-T angle QTL GWAS1267164 (human)6e-09heart excitatory physiology trait (VT:0000231)107612773676127737Human
406932043GWAS581019_Hbalding measurement QTL GWAS581019 (human)1e-71hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107644383576443836Human
406999118GWAS648094_Hadolescent idiopathic scoliosis QTL GWAS648094 (human)0.000006adolescent idiopathic scoliosis107606739776067398Human
597048204GWAS1144278_HBMI-adjusted waist-hip ratio QTL GWAS1144278 (human)6e-09body size trait (VT:0100005)107553619975536200Human
597248386GWAS1344460_Hcomplement factor H-related protein 2 measurement QTL GWAS1344460 (human)0.000002complement factor H-related protein 2 measurement107567585775675858Human
597272967GWAS1369041_Htype 2 diabetes mellitus QTL GWAS1369041 (human)4e-11type 2 diabetes mellitus107548457875484579Human
407032931GWAS681907_Hunipolar depression QTL GWAS681907 (human)4e-09unipolar depression107582244575822446Human
597040304GWAS1136378_Hheel bone mineral density QTL GWAS1136378 (human)1e-11heel bone mineral densitybone mineral density (CMO:0001226)107586114475861145Human
597040305GWAS1136379_Hheel bone mineral density QTL GWAS1136379 (human)6e-18heel bone mineral densitybone mineral density (CMO:0001226)107653946976539470Human
407053675GWAS702651_Hinsomnia measurement QTL GWAS702651 (human)7e-09sleep behavior trait (VT:0001501)107601143676011437Human
597120191GWAS1216265_Hchronic obstructive pulmonary disease QTL GWAS1216265 (human)3e-10lung integrity trait (VT:0010906)107655912176559122Human
407024488GWAS673464_Hpulmonary function measurement, forced expiratory volume QTL GWAS673464 (human)3e-12pulmonary function measurement, forced expiratory volumeforced expiratory volume (CMO:0000254)107655546676555467Human
597346224GWAS1442298_Hforced expiratory volume QTL GWAS1442298 (human)3e-42forced expiratory volumeforced expiratory volume (CMO:0000254)107655912176559122Human
597142203GWAS1238277_Heducational attainment QTL GWAS1238277 (human)2e-08educational attainment107548086975480870Human
406978156GWAS627132_Hhematocrit QTL GWAS627132 (human)4e-09hematocrithematocrit (CMO:0000037)107553335175533352Human
597223862GWAS1319936_HBMI-adjusted waist circumference QTL GWAS1319936 (human)5e-08body size trait (VT:0100005)107553608575536086Human
597180086GWAS1276160_Hbody mass index QTL GWAS1276160 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)107569495575694956Human
597180087GWAS1276161_Hbody mass index QTL GWAS1276161 (human)8e-15body mass indexbody mass index (BMI) (CMO:0000105)107577424275774243Human
407058803GWAS707779_Hheel bone mineral density QTL GWAS707779 (human)2e-12heel bone mineral densitybone mineral density (CMO:0001226)107609339276093393Human
597206184GWAS1302258_Halbuminuria QTL GWAS1302258 (human)1e-13albuminuria107613392876133929Human
597517998GWAS1614072_Hlean body mass QTL GWAS1614072 (human)8e-15body lean mass (VT:0010483)total body lean mass (CMO:0003950)107545043375450434Human
406967410GWAS616386_Hvital capacity QTL GWAS616386 (human)0.0000004vital capacity107655224476552245Human
597096609GWAS1192683_Hsex hormone-binding globulin measurement QTL GWAS1192683 (human)0.0000009sex hormone-binding globulin measurement107552116575521166Human
597101486GWAS1197560_Hcognitive function measurement QTL GWAS1197560 (human)0.000002cognitive behavior trait (VT:0010450)107548270275482703Human
597103790GWAS1199864_Htype 2 diabetes mellitus QTL GWAS1199864 (human)2e-09type 2 diabetes mellitus107555485975554860Human
597614243GWAS1671103_Hpotassium measurement QTL GWAS1671103 (human)3e-12potassium measurementblood potassium level (CMO:0000496)107592698375926984Human
407092483GWAS741459_Hbalding measurement QTL GWAS741459 (human)2e-09hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107640763076407631Human
597086677GWAS1182751_Htype 2 diabetes mellitus QTL GWAS1182751 (human)6e-10type 2 diabetes mellitus107548457875484579Human
597618397GWAS1675257_Hatrial fibrillation QTL GWAS1675257 (human)4e-13atrial fibrillation107617264476172645Human
597123796GWAS1219870_Hchronic obstructive pulmonary disease QTL GWAS1219870 (human)4e-10lung integrity trait (VT:0010906)107655912176559122Human
597093074GWAS1189148_Hexploratory eye movement measurement QTL GWAS1189148 (human)0.000001exploratory eye movement measurementeye physiological measurement (CMO:0003652)107568867775688678Human
407092484GWAS741460_Hbalding measurement QTL GWAS741460 (human)2e-15hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107597755075977551Human
597422556GWAS1518630_Hatrial fibrillation QTL GWAS1518630 (human)1e-09atrial fibrillation107617691276176913Human
407026693GWAS675669_Hresponse to antineoplastic agent QTL GWAS675669 (human)6e-09response to antineoplastic agent107639781476397815Human
407144973GWAS793949_Hresponse to antineoplastic agent QTL GWAS793949 (human)0.000007response to antineoplastic agent107615127476151275Human
597295315GWAS1391389_Hphosphatidylcholine 39:5 measurement QTL GWAS1391389 (human)2e-08phosphatidylcholine 39:5 measurement107617075076170751Human
597349840GWAS1445914_Hrestless legs syndrome QTL GWAS1445914 (human)5e-14restless legs syndrome107609322676093227Human
597060313GWAS1156387_Hrefractive error, age at onset, Myopia QTL GWAS1156387 (human)4e-08refractive error, age at onset, Myopia107605508976055090Human
406942222GWAS591198_Hforced expiratory volume QTL GWAS591198 (human)4e-34forced expiratory volumeforced expiratory volume (CMO:0000254)107655224476552245Human
407052563GWAS701539_Hocular sarcoidosis QTL GWAS701539 (human)0.000004eye integrity trait (VT:0011107)107575168875751689Human
597100231GWAS1196305_Hurinary albumin to creatinine ratio QTL GWAS1196305 (human)2e-13urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)107613521076135211Human
597098694GWAS1194768_Hbody mass index QTL GWAS1194768 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)107587447675874477Human
406938899GWAS587875_Hhemoglobin measurement QTL GWAS587875 (human)8e-15hemoglobin measurementhemoglobin measurement (CMO:0000508)107617848476178485Human
407105297GWAS754273_HFEV/FVC ratio QTL GWAS754273 (human)3e-15FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)107655224476552245Human
406967315GWAS616291_Hforced expiratory volume QTL GWAS616291 (human)5e-08forced expiratory volumeforced expiratory volume (CMO:0000254)107655224476552245Human
597139909GWAS1235983_Hchronic obstructive pulmonary disease QTL GWAS1235983 (human)6e-29lung integrity trait (VT:0010906)107655557676555577Human
406938898GWAS587874_Hhemoglobin measurement QTL GWAS587874 (human)7e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)107556188775561888Human
597026758GWAS1122832_Hbody mass index QTL GWAS1122832 (human)5e-11body mass indexbody mass index (BMI) (CMO:0000105)107588547175885472Human
597178572GWAS1274646_HQRS-T angle QTL GWAS1274646 (human)8e-09heart excitatory physiology trait (VT:0000231)107612773676127737Human
597121473GWAS1217547_HCleft palate, cleft lip QTL GWAS1217547 (human)0.000008Cleft palate, cleft lip107546212775462128Human
407072789GWAS721765_Hurinary albumin to creatinine ratio QTL GWAS721765 (human)2e-12urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)107613392876133929Human
597164482GWAS1260556_Htype 2 diabetes mellitus QTL GWAS1260556 (human)7e-10type 2 diabetes mellitus107546175675461757Human
597032910GWAS1128984_Hlean body mass QTL GWAS1128984 (human)0.000005body lean mass (VT:0010483)total body lean mass (CMO:0003950)107546175675461757Human
597150154GWAS1246228_Hlifestyle measurement, anxiety disorder measurement QTL GWAS1246228 (human)4e-09anxiety-related behavior trait (VT:0010716)107592930075929301Human
597332679GWAS1428753_Hatrial fibrillation QTL GWAS1428753 (human)2e-10atrial fibrillation107617691276176913Human
597099721GWAS1195795_Hcardiac arrhythmia QTL GWAS1195795 (human)4e-08cardiac arrhythmia107617691176176912Human
597620477GWAS1677337_HVertigo QTL GWAS1677337 (human)4e-11Vertigo107631860276318603Human
597036017GWAS1132091_Htriglyceride measurement QTL GWAS1132091 (human)8e-10triglyceride measurementblood triglyceride level (CMO:0000118)107545732275457323Human
596974846GWAS1094365_Hmajor depressive disorder QTL GWAS1094365 (human)4e-09major depressive disorder107582244575822446Human
406943533GWAS592509_Hhematocrit QTL GWAS592509 (human)1e-13hematocrithematocrit (CMO:0000037)107617848476178485Human
406943532GWAS592508_Hhematocrit QTL GWAS592508 (human)7e-11hematocrithematocrit (CMO:0000037)107545696975456970Human
597169653GWAS1265727_Htype 2 diabetes mellitus QTL GWAS1265727 (human)3e-08type 2 diabetes mellitus107555025875550259Human
596961273GWAS1080792_Hmetabolic syndrome QTL GWAS1080792 (human)4e-14metabolic syndrome107586176275861763Human
597073147GWAS1169221_Handrogenetic alopecia QTL GWAS1169221 (human)9e-24androgenetic alopecia107643685476436855Human
407048755GWAS697731_Hfructose measurement, glucose measurement, galactose measurement QTL GWAS697731 (human)0.0000003fructose absorption trait (VT:0001668)blood glucose level (CMO:0000046)107603009076030091Human
406886705GWAS535681_Hheel bone mineral density QTL GWAS535681 (human)6e-14heel bone mineral densitybone mineral density (CMO:0001226)107651927576519276Human
406993462GWAS642438_Hintelligence QTL GWAS642438 (human)0.000005intelligence107564314875643149Human
597057251GWAS1153325_Hadolescent idiopathic scoliosis QTL GWAS1153325 (human)2e-33adolescent idiopathic scoliosis107559683675596837Human
597270766GWAS1366840_Htype 2 diabetes mellitus QTL GWAS1366840 (human)0.000005type 2 diabetes mellitus107548457875484579Human
407072314GWAS721290_HModerate albuminuria QTL GWAS721290 (human)2e-11Moderate albuminuria107613392876133929Human
597391329GWAS1487403_Happendicular lean mass QTL GWAS1487403 (human)1e-13appendicular lean mass107545043375450434Human
596962286GWAS1081805_Hbrain measurement QTL GWAS1081805 (human)1e-12brain measurement107566386575663866Human
597123052GWAS1219126_Hchronic obstructive pulmonary disease QTL GWAS1219126 (human)0.0000002lung integrity trait (VT:0010906)107655912176559122Human
597255141GWAS1351215_Hheel bone mineral density, urate measurement QTL GWAS1351215 (human)3e-09heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)107651099876510999Human
406928444GWAS577420_Hbalding measurement QTL GWAS577420 (human)2e-10hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107615103376151034Human
597033704GWAS1129778_Hlean body mass QTL GWAS1129778 (human)7e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)107546175675461757Human
407071171GWAS720147_Hurinary albumin to creatinine ratio QTL GWAS720147 (human)1e-12urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)107613392876133929Human
597211676GWAS1307750_Hbalding measurement QTL GWAS1307750 (human)1e-13hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107643834976438350Human
597240339GWAS1336413_HBMI-adjusted waist-hip ratio QTL GWAS1336413 (human)8e-09body size trait (VT:0100005)107553619975536200Human
597612052GWAS1668912_Htemporomandibular joint disorder QTL GWAS1668912 (human)4e-11temporomandibular joint disorder107630203276302033Human
406917324GWAS566300_Hbalding measurement QTL GWAS566300 (human)9e-10hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107641190876411909Human
597106457GWAS1202531_Hsex hormone-binding globulin measurement QTL GWAS1202531 (human)4e-08sex hormone-binding globulin measurement107552314175523142Human
597058840GWAS1154914_HFEV/FVC ratio QTL GWAS1154914 (human)3e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)107589997575899976Human
597335317GWAS1431391_HCOVID-19 QTL GWAS1431391 (human)0.000003COVID-19107649042676490427Human
597058841GWAS1154915_HFEV/FVC ratio QTL GWAS1154915 (human)1e-21FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)107655912176559122Human
597034500GWAS1130574_Hbalding measurement QTL GWAS1130574 (human)1e-08hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107626545576265456Human
597043973GWAS1140047_Hforced expiratory volume QTL GWAS1140047 (human)1e-08forced expiratory volumeforced expiratory volume (CMO:0000254)107655546676555467Human
597060866GWAS1156940_Hmetabolic syndrome QTL GWAS1156940 (human)4e-14metabolic syndrome107586176275861763Human
597026562GWAS1122636_Hheel bone mineral density QTL GWAS1122636 (human)4e-10heel bone mineral densitybone mineral density (CMO:0001226)107583196575831966Human
597227009GWAS1323083_Hprotein measurement QTL GWAS1323083 (human)8e-09protein measurement107575659975756600Human
406959320GWAS608296_Handrogenetic alopecia QTL GWAS608296 (human)2e-12androgenetic alopecia107643685476436855Human
597609476GWAS1666336_Hmagnesium measurement QTL GWAS1666336 (human)6e-13magnesium measurementserum magnesium level (CMO:0000541)107597755075977551Human
597089293GWAS1185367_Htype 2 diabetes mellitus QTL GWAS1185367 (human)7e-09type 2 diabetes mellitus107555025875550259Human
406962400GWAS611376_Hanorexia nervosa QTL GWAS611376 (human)0.000003anorexia nervosa107553885175538852Human
597282616GWAS1378690_Hhemoglobin measurement QTL GWAS1378690 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)107616644676166447Human
597102387GWAS1198461_Halopecia QTL GWAS1198461 (human)1e-11alopecia107643020176430202Human
597201981GWAS1298055_Hrestless legs syndrome QTL GWAS1298055 (human)7e-09restless legs syndrome107609355076093551Human
596955196GWAS1074715_Hbody mass index QTL GWAS1074715 (human)5e-09body mass index107586673075866731Human
597030205GWAS1126279_Hbalding measurement QTL GWAS1126279 (human)5e-14hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107597755075977551Human
597030204GWAS1126278_Hbalding measurement QTL GWAS1126278 (human)2e-13hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107547185075471851Human
597270834GWAS1366908_Htype 2 diabetes mellitus QTL GWAS1366908 (human)0.000002type 2 diabetes mellitus107548457875484579Human
597030206GWAS1126280_Hbalding measurement QTL GWAS1126280 (human)1e-71hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107643834976438350Human
597083962GWAS1180036_Hwhite matter hyperintensity measurement QTL GWAS1180036 (human)0.000003white matter hyperintensity measurement107592698375926984Human
597156902GWAS1252976_Hsex hormone-binding globulin measurement QTL GWAS1252976 (human)0.0000006sex hormone-binding globulin measurement107552314175523142Human
596952613GWAS1072132_Hbody mass index QTL GWAS1072132 (human)3e-12body mass index107589997575899976Human
597113892GWAS1209966_Herythrocyte count QTL GWAS1209966 (human)2e-11erythrocyte countred blood cell count (CMO:0000025)107545636775456368Human
597047845GWAS1143919_HC-reactive protein measurement QTL GWAS1143919 (human)4e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)107570726275707263Human
597029920GWAS1125994_HBMI-adjusted waist-hip ratio QTL GWAS1125994 (human)1e-12body size trait (VT:0100005)107553619975536200Human
597618728GWAS1675588_Hatrial fibrillation QTL GWAS1675588 (human)2e-12atrial fibrillation107617264476172645Human
597110560GWAS1206634_Hviral load QTL GWAS1206634 (human)2e-16viral load107644974876449749Human
597043233GWAS1139307_Hforced expiratory volume QTL GWAS1139307 (human)0.000006forced expiratory volumeforced expiratory volume (CMO:0000254)107655546676555467Human
407109886GWAS758862_Hwaist-hip ratio QTL GWAS758862 (human)1e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)107553619975536200Human
597262371GWAS1358445_Hinsomnia QTL GWAS1358445 (human)3e-09insomnia107586026375860264Human
597154858GWAS1250932_HBMI-adjusted waist-hip ratio QTL GWAS1250932 (human)4e-09body size trait (VT:0100005)107553619975536200Human
597258532GWAS1354606_Hatrial fibrillation QTL GWAS1354606 (human)6e-10atrial fibrillation107617558776175588Human
597097512GWAS1193586_Hsex hormone-binding globulin measurement QTL GWAS1193586 (human)2e-08sex hormone-binding globulin measurement107552116575521166Human
597036328GWAS1132402_Hgut microbiome measurement QTL GWAS1132402 (human)0.000007gut microbiome measurement107585401875854019Human
597027882GWAS1123956_Hatrial fibrillation QTL GWAS1123956 (human)1e-11atrial fibrillation107617558776175588Human
597124136GWAS1220210_Hchronic obstructive pulmonary disease QTL GWAS1220210 (human)0.0000001lung integrity trait (VT:0010906)107655912176559122Human
597059414GWAS1155488_Hvital capacity QTL GWAS1155488 (human)1e-25vital capacity107655224476552245Human
407054466GWAS703442_Hpeak expiratory flow QTL GWAS703442 (human)4e-10peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)107655224476552245Human
597058388GWAS1154462_Hbasophil percentage of leukocytes QTL GWAS1154462 (human)1e-09basophil quantity (VT:0002607)blood basophil count to total leukocyte count ratio (CMO:0000368)107549446575494466Human
597173850GWAS1269924_Hmajor depressive disorder QTL GWAS1269924 (human)4e-09major depressive disorder107582244575822446Human
597182043GWAS1278117_Hbody mass index QTL GWAS1278117 (human)5e-11body mass indexbody mass index (BMI) (CMO:0000105)107589948575899486Human
597058387GWAS1154461_Hbasophil percentage of leukocytes QTL GWAS1154461 (human)2e-09basophil quantity (VT:0002607)blood basophil count to total leukocyte count ratio (CMO:0000368)107543168375431684Human
597102161GWAS1198235_Hcognitive function measurement QTL GWAS1198235 (human)0.000001cognitive behavior trait (VT:0010450)107548270275482703Human
406940807GWAS589783_Hvital capacity QTL GWAS589783 (human)2e-21vital capacity107655224476552245Human
597211231GWAS1307305_Halbuminuria QTL GWAS1307305 (human)6e-10albuminuria107613392876133929Human
597332061GWAS1428135_Hatrial fibrillation QTL GWAS1428135 (human)4e-18atrial fibrillation107617691276176913Human
597436244GWAS1532318_Hmetabolite measurement QTL GWAS1532318 (human)1e-12metabolite measurement107554110275541103Human
597313360GWAS1409434_Hvaginal microbiome measurement QTL GWAS1409434 (human)0.000003vaginal microbiome measurement107602227876022279Human
597313361GWAS1409435_Hvaginal microbiome measurement QTL GWAS1409435 (human)0.000004vaginal microbiome measurement107602619776026198Human
597087066GWAS1183140_Htype 2 diabetes mellitus QTL GWAS1183140 (human)5e-12type 2 diabetes mellitus107556388575563886Human
406943117GWAS592093_Hchronic obstructive pulmonary disease QTL GWAS592093 (human)0.000002lung integrity trait (VT:0010906)107589997575899976Human
597165908GWAS1261982_Hopen-angle glaucoma QTL GWAS1261982 (human)8e-10open-angle glaucoma107652230576522306Human
597039431GWAS1135505_Hbalding measurement QTL GWAS1135505 (human)4e-25hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)107547185075471851Human
406973843GWAS622819_HQRS amplitude, QRS complex QTL GWAS622819 (human)0.000001QRS amplitude, QRS complexQRS amplitude (CMO:0000268)107613148876131489Human
597313358GWAS1409432_Hvaginal microbiome measurement QTL GWAS1409432 (human)0.000009vaginal microbiome measurement107599230375992304Human
597313359GWAS1409433_Hvaginal microbiome measurement QTL GWAS1409433 (human)0.000003vaginal microbiome measurement107602138876021389Human
597602632GWAS1659492_Htype 2 diabetes mellitus QTL GWAS1659492 (human)3e-15type 2 diabetes mellitus107548457875484579Human
597602633GWAS1659493_Htype 2 diabetes mellitus QTL GWAS1659493 (human)5e-09type 2 diabetes mellitus107588734975887350Human
597200705GWAS1296779_Hneuroticism measurement, emotional symptom measurement QTL GWAS1296779 (human)0.000006emotion/affect behavior trait (VT:0002572)107588844575888446Human
597103949GWAS1200023_Halopecia QTL GWAS1200023 (human)2e-24alopecia107643685476436855Human
597103948GWAS1200022_Halopecia QTL GWAS1200022 (human)2e-24alopecia107643505476435055Human
597290567GWAS1386641_Hbody mass index QTL GWAS1386641 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)107589997575899976Human
406985122GWAS634098_Hhemoglobin measurement QTL GWAS634098 (human)6e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)107553335175533352Human
597143414GWAS1239488_Hchronic obstructive pulmonary disease QTL GWAS1239488 (human)2e-15lung integrity trait (VT:0010906)107589997575899976Human
597057908GWAS1153982_Hadolescent idiopathic scoliosis QTL GWAS1153982 (human)3e-08adolescent idiopathic scoliosis107571688575716886Human
597257339GWAS1353413_Hcardioembolic stroke QTL GWAS1353413 (human)2e-08cardioembolic stroke107616893176168932Human
597117556GWAS1213630_Hresponse to supplemental oxygen QTL GWAS1213630 (human)0.000007response to supplemental oxygen107584596675845967Human
597026673GWAS1122747_Hbody mass index QTL GWAS1122747 (human)9e-09body mass indexbody mass index (BMI) (CMO:0000105)107587447675874477Human
597233532GWAS1329606_Happendicular lean mass QTL GWAS1329606 (human)1e-27appendicular lean mass107545846875458473Human
597047418GWAS1143492_Herythrocyte count QTL GWAS1143492 (human)2e-09erythrocyte countred blood cell count (CMO:0000025)107617816076178161Human
597266039GWAS1362113_Htriglyceride measurement QTL GWAS1362113 (human)6e-09triglyceride measurementblood triglyceride level (CMO:0000118)107549761875497619Human
597088376GWAS1184450_Htype 2 diabetes mellitus QTL GWAS1184450 (human)9e-10type 2 diabetes mellitus107588734975887350Human
597334900GWAS1430974_HCOVID-19 QTL GWAS1430974 (human)0.0000002COVID-19107649042676490427Human
597186422GWAS1282496_Hforced expiratory volume QTL GWAS1282496 (human)2e-19forced expiratory volumeforced expiratory volume (CMO:0000254)107655912176559122Human
597047417GWAS1143491_Herythrocyte count QTL GWAS1143491 (human)2e-11erythrocyte countred blood cell count (CMO:0000025)107553335175533352Human
406981810GWAS630786_Hhemoglobin measurement QTL GWAS630786 (human)2e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)107617848476178485Human
597226601GWAS1322675_Hatrial fibrillation QTL GWAS1322675 (human)7e-10atrial fibrillation107617681876176819Human
597157221GWAS1253295_Hopen-angle glaucoma QTL GWAS1253295 (human)7e-10open-angle glaucoma107652230576522306Human
597056100GWAS1152174_Hadolescent idiopathic scoliosis QTL GWAS1152174 (human)2e-10adolescent idiopathic scoliosis107653862276538623Human
406981809GWAS630785_Hhemoglobin measurement QTL GWAS630785 (human)7e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)107558637075586371Human
597036641GWAS1132715_Hbody mass index QTL GWAS1132715 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)107589675175896752Human
597226336GWAS1322410_Hheel bone mineral density QTL GWAS1322410 (human)1e-10heel bone mineral densitybone mineral density (CMO:0001226)107586114475861145Human
597333090GWAS1429164_Hatrial fibrillation QTL GWAS1429164 (human)3e-09atrial fibrillation107617691276176913Human
597236065GWAS1332139_Hatrial fibrillation QTL GWAS1332139 (human)3e-10atrial fibrillation107619006276190063Human
597096047GWAS1192121_Hsex hormone-binding globulin measurement QTL GWAS1192121 (human)0.000008sex hormone-binding globulin measurement107552314175523142Human
597313123GWAS1409197_Hvaginal microbiome measurement QTL GWAS1409197 (human)0.000006vaginal microbiome measurement107602578176025782Human
597226337GWAS1322411_Hheel bone mineral density QTL GWAS1322411 (human)7e-10heel bone mineral densitybone mineral density (CMO:0001226)107609676676096767Human
597334624GWAS1430698_Hsusceptibility to common cold measurement QTL GWAS1430698 (human)0.0000006susceptibility to common cold measurement107589492475894925Human
597226338GWAS1322412_Hheel bone mineral density QTL GWAS1322412 (human)2e-14heel bone mineral densitybone mineral density (CMO:0001226)107653946976539470Human
597202532GWAS1298606_Hlean body mass QTL GWAS1298606 (human)3e-12body lean mass (VT:0010483)total body lean mass (CMO:0003950)107543168375431684Human
597051754GWAS1147828_Hhematocrit QTL GWAS1147828 (human)3e-16hematocrithematocrit (CMO:0000037)107617848476178485Human
597123946GWAS1220020_Hsmoking status measurement, chronic obstructive pulmonary disease QTL GWAS1220020 (human)5e-10lung integrity trait (VT:0010906)107655912176559122Human
597051753GWAS1147827_Hhematocrit QTL GWAS1147827 (human)3e-11hematocrithematocrit (CMO:0000037)107556188775561888Human

Markers in Region
D10S1699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,188,726 - 78,188,958UniSTSGRCh37
Build 361077,858,732 - 77,858,964RGDNCBI36
Celera1071,477,612 - 71,477,844RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,186,332 - 72,186,574UniSTS
Marshfield Genetic Map1097.29UniSTS
Marshfield Genetic Map1097.29RGD
Genethon Genetic Map10100.5UniSTS
deCODE Assembly Map1095.79UniSTS
D10S195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,619,256 - 77,619,433UniSTSGRCh37
GRCh371077,619,261 - 77,619,438UniSTSGRCh37
GRCh371077,619,292 - 77,619,438UniSTSGRCh37
Build 361077,289,262 - 77,289,439RGDNCBI36
Celera1070,908,333 - 70,908,477UniSTS
Celera1070,908,297 - 70,908,472RGD
Celera1070,908,302 - 70,908,477UniSTS
Cytogenetic Map10q22.3UniSTS
HuRef1071,616,877 - 71,617,050UniSTS
HuRef1071,616,882 - 71,617,055UniSTS
HuRef1071,616,913 - 71,617,055UniSTS
Marshfield Genetic Map1094.48RGD
Genethon Genetic Map1098.1UniSTS
TNG Radiation Hybrid Map1037502.0UniSTS
deCODE Assembly Map1094.72UniSTS
Stanford-G3 RH Map103576.0UniSTS
GeneMap99-GB4 RH Map10385.57UniSTS
Whitehead-RH Map10462.7UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10941.4UniSTS
NCBI RH Map10930.9UniSTS
GeneMap99-G3 RH Map103552.0UniSTS
D10S580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,058,886 - 78,059,012UniSTSGRCh37
GRCh371078,058,886 - 78,058,927UniSTSGRCh37
GRCh371078,058,878 - 78,058,972UniSTSGRCh37
Build 361077,728,884 - 77,728,978RGDNCBI36
Celera1071,347,762 - 71,347,803UniSTS
Celera1071,347,754 - 71,347,848RGD
Celera1071,347,762 - 71,347,888UniSTS
Cytogenetic Map10q22.3UniSTS
HuRef1072,056,423 - 72,056,549UniSTS
HuRef1072,056,415 - 72,056,509UniSTS
HuRef1072,056,423 - 72,056,464UniSTS
Marshfield Genetic Map1096.72UniSTS
Marshfield Genetic Map1096.72RGD
Genethon Genetic Map1099.8UniSTS
TNG Radiation Hybrid Map1037303.0UniSTS
deCODE Assembly Map1095.52UniSTS
Stanford-G3 RH Map103562.0UniSTS
GeneMap99-GB4 RH Map10387.37UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10939.6UniSTS
NCBI RH Map10965.3UniSTS
GeneMap99-G3 RH Map103538.0UniSTS
SGC34457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,589,055 - 77,589,204UniSTSGRCh37
Build 361077,259,061 - 77,259,210RGDNCBI36
Celera1070,878,087 - 70,878,236RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,586,665 - 71,586,814UniSTS
GeneMap99-GB4 RH Map10385.67UniSTS
Whitehead-RH Map10462.1UniSTS
RH65118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,030,254 - 78,030,448UniSTSGRCh37
Build 361077,700,260 - 77,700,454RGDNCBI36
Celera1071,319,139 - 71,319,333RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,027,799 - 72,027,993UniSTS
GeneMap99-GB4 RH Map10387.37UniSTS
RH65409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,767,839 - 77,767,994UniSTSGRCh37
Build 361077,437,845 - 77,438,000RGDNCBI36
Celera1071,056,896 - 71,057,051RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,765,468 - 71,765,623UniSTS
GeneMap99-GB4 RH Map10386.79UniSTS
RH17561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,183,859 - 78,184,046UniSTSGRCh37
Build 361077,853,865 - 77,854,052RGDNCBI36
Celera1071,472,745 - 71,472,932RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,181,465 - 72,181,652UniSTS
GeneMap99-GB4 RH Map10391.68UniSTS
RH80991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,307,925 - 78,308,141UniSTSGRCh37
Build 361077,977,931 - 77,978,147RGDNCBI36
Celera1071,596,787 - 71,597,003RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,305,527 - 72,305,743UniSTS
GeneMap99-GB4 RH Map10387.47UniSTS
RH91322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,315,083 - 78,315,216UniSTSGRCh37
Build 361077,985,089 - 77,985,222RGDNCBI36
Celera1071,603,934 - 71,604,067RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,312,674 - 72,312,807UniSTS
GeneMap99-GB4 RH Map10387.37UniSTS
RH104303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,243,085 - 78,243,265UniSTSGRCh37
Build 361077,913,091 - 77,913,271RGDNCBI36
Celera1071,531,971 - 71,532,151RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,240,702 - 72,240,882UniSTS
GeneMap99-GB4 RH Map10387.37UniSTS
SHGC-81232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,818,006 - 77,818,334UniSTSGRCh37
Build 361077,488,012 - 77,488,340RGDNCBI36
Celera1071,107,059 - 71,107,387RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,815,650 - 71,815,978UniSTS
TNG Radiation Hybrid Map1037406.0UniSTS
SHGC-84049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,805,669 - 77,805,970UniSTSGRCh37
Build 361077,475,675 - 77,475,976RGDNCBI36
Celera1071,094,724 - 71,095,026RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,803,318 - 71,803,620UniSTS
TNG Radiation Hybrid Map1037419.0UniSTS
RH122658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,928,987 - 77,929,281UniSTSGRCh37
Build 361077,598,993 - 77,599,287RGDNCBI36
Celera1071,217,907 - 71,218,201RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,926,578 - 71,926,872UniSTS
TNG Radiation Hybrid Map1037333.0UniSTS
G60571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,188,684 - 78,188,968UniSTSGRCh37
Build 361077,858,690 - 77,858,974RGDNCBI36
Celera1071,477,570 - 71,477,854RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,186,290 - 72,186,584UniSTS
TNG Radiation Hybrid Map1037260.0UniSTS
TNG Radiation Hybrid Map381125.0UniSTS
RH119191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,954,495 - 77,954,790UniSTSGRCh37
Build 361077,624,501 - 77,624,796RGDNCBI36
Celera1071,243,415 - 71,243,710RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,952,090 - 71,952,385UniSTS
TNG Radiation Hybrid Map1037344.0UniSTS
RH119242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,290,633 - 78,290,919UniSTSGRCh37
Build 361077,960,639 - 77,960,925RGDNCBI36
Celera1071,579,511 - 71,579,797RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,288,241 - 72,288,527UniSTS
RH118820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,202,778 - 78,203,066UniSTSGRCh37
Build 361077,872,784 - 77,873,072RGDNCBI36
Celera1071,491,663 - 71,491,951RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,200,393 - 72,200,681UniSTS
TNG Radiation Hybrid Map1037256.0UniSTS
SHGC-106442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,585,593 - 77,585,904UniSTSGRCh37
Build 361077,255,599 - 77,255,910RGDNCBI36
Celera1070,874,625 - 70,874,936RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,583,203 - 71,583,514UniSTS
TNG Radiation Hybrid Map1037485.0UniSTS
SHGC-145029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,274,836 - 78,275,158UniSTSGRCh37
Build 361077,944,842 - 77,945,164RGDNCBI36
Celera1071,563,719 - 71,564,041RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,272,449 - 72,272,771UniSTS
TNG Radiation Hybrid Map1038386.0UniSTS
SHGC-144206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,035,886 - 78,036,237UniSTSGRCh37
Build 361077,705,892 - 77,706,243RGDNCBI36
Celera1071,324,767 - 71,325,118RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,033,431 - 72,033,782UniSTS
TNG Radiation Hybrid Map1037299.0UniSTS
D10S2266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,143,698 - 78,143,875UniSTSGRCh37
Build 361077,813,704 - 77,813,881RGDNCBI36
Celera1071,432,582 - 71,432,759RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,141,242 - 72,141,419UniSTS
Whitehead-RH Map10462.8UniSTS
Whitehead-YAC Contig Map10 UniSTS
AFM206YG1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,971,808 - 77,972,086UniSTSGRCh37
Build 361077,641,814 - 77,642,092RGDNCBI36
Celera1071,260,724 - 71,261,006RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,969,399 - 71,969,677UniSTS
Whitehead-YAC Contig Map10 UniSTS
KS701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,562,044 - 77,562,173UniSTSGRCh37
Build 361077,232,050 - 77,232,179RGDNCBI36
Celera1070,851,053 - 70,851,180RGD
HuRef1071,559,722 - 71,559,849UniSTS
RH70106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,552,547 - 77,552,667UniSTSGRCh37
Build 361077,222,553 - 77,222,673RGDNCBI36
Celera1070,841,563 - 70,841,683RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,550,238 - 71,550,358UniSTS
GeneMap99-GB4 RH Map10386.48UniSTS
AB056408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,318,667 - 78,318,813UniSTSGRCh37
Build 361077,988,673 - 77,988,819RGDNCBI36
Celera1071,607,515 - 71,607,661RGD
HuRef1072,316,255 - 72,316,401UniSTS
RH44932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,629,782 - 77,629,882UniSTSGRCh37
Build 361077,299,788 - 77,299,888RGDNCBI36
Celera1070,918,824 - 70,918,924RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,627,403 - 71,627,503UniSTS
GeneMap99-GB4 RH Map10385.37UniSTS
G17476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,317,959 - 78,318,060UniSTSGRCh37
Build 361077,987,965 - 77,988,066RGDNCBI36
Celera1071,606,807 - 71,606,908RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,315,547 - 72,315,648UniSTS
STS-N25920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,319,544 - 78,319,666UniSTSGRCh37
Build 361077,989,550 - 77,989,672RGDNCBI36
Celera1071,608,392 - 71,608,514RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,317,132 - 72,317,254UniSTS
GeneMap99-GB4 RH Map10391.68UniSTS
G18060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,174,071 - 78,174,185UniSTSGRCh37
Build 361077,844,077 - 77,844,191RGDNCBI36
Celera1071,462,955 - 71,463,069RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,171,677 - 72,171,791UniSTS
G28019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371078,316,992 - 78,317,119UniSTSGRCh37
Build 361077,986,998 - 77,987,125RGDNCBI36
Celera1071,605,840 - 71,605,967RGD
Cytogenetic Map10q22.3UniSTS
HuRef1072,314,580 - 72,314,707UniSTS
D3S3970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371077,783,499 - 77,783,674UniSTSGRCh37
Build 361077,453,505 - 77,453,680RGDNCBI36
Celera1071,072,558 - 71,072,733RGD
Cytogenetic Map10q22.3UniSTS
HuRef1071,781,152 - 71,781,327UniSTS
D10S580  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.3UniSTS
Stanford-G3 RH Map103562.0UniSTS
NCBI RH Map10939.6UniSTS
GeneMap99-G3 RH Map103538.0UniSTS
D10S580  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.3UniSTS
TNG Radiation Hybrid Map1037303.0UniSTS
NCBI RH Map10965.3UniSTS
D10S195  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.3UniSTS
Stanford-G3 RH Map103576.0UniSTS
NCBI RH Map10941.4UniSTS
GeneMap99-G3 RH Map103552.0UniSTS
D10S195  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.3UniSTS
Marshfield Genetic Map1094.48UniSTS
Genethon Genetic Map1098.1UniSTS
deCODE Assembly Map1094.72UniSTS
GeneMap99-GB4 RH Map10385.57UniSTS
Whitehead-RH Map10462.7UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10930.9UniSTS


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
1204 2425 2788 2243 4941 1723 2342 4 622 1872 464 2268 7202 6380 52 3707 847 1730 1609 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_131178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF267860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL607027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM720401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX105111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY006640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372499   ⟹   ENSP00000361577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,782,761 - 76,557,375 (+)Ensembl
Ensembl Acc Id: ENST00000468134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,396,501 - 76,557,326 (+)Ensembl
Ensembl Acc Id: ENST00000483375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,403,221 - 76,557,356 (+)Ensembl
Ensembl Acc Id: ENST00000488655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,324,401 - 76,557,306 (+)Ensembl
Ensembl Acc Id: ENST00000488759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,403,221 - 76,557,352 (+)Ensembl
Ensembl Acc Id: ENST00000493194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,464,814 - 76,557,340 (+)Ensembl
Ensembl Acc Id: ENST00000493690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,556,387 - 76,557,357 (+)Ensembl
Ensembl Acc Id: ENST00000496424   ⟹   ENSP00000472558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,318,334 - 76,560,167 (+)Ensembl
Ensembl Acc Id: ENST00000593699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,647,509 - 76,557,377 (+)Ensembl
Ensembl Acc Id: ENST00000593817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,601,240 - 76,036,136 (+)Ensembl
Ensembl Acc Id: ENST00000595936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,470,398 - 76,557,353 (+)Ensembl
Ensembl Acc Id: ENST00000596228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,402,229 - 76,557,529 (+)Ensembl
Ensembl Acc Id: ENST00000597823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,402,229 - 76,557,577 (+)Ensembl
Ensembl Acc Id: ENST00000598708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,324,401 - 76,557,366 (+)Ensembl
Ensembl Acc Id: ENST00000611255   ⟹   ENSP00000480240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,431,624 - 76,560,168 (+)Ensembl
Ensembl Acc Id: ENST00000611306   ⟹   ENSP00000482991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1076,036,006 - 76,058,789 (+)Ensembl
RefSeq Acc Id: NM_001305581   ⟹   NP_001292510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381075,431,624 - 76,560,168 (+)NCBI
CHM1_11077,473,691 - 78,599,704 (+)NCBI
T2T-CHM13v2.01076,305,674 - 77,428,762 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032024   ⟹   NP_114413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381075,782,761 - 76,560,168 (+)NCBI
GRCh371077,191,217 - 78,317,133 (+)NCBI
Build 361077,212,525 - 77,987,136 (+)NCBI Archive
Celera1070,831,521 - 71,605,978 (+)RGD
HuRef1071,540,196 - 72,314,718 (+)ENTREZGENE
CHM1_11077,824,689 - 78,599,704 (+)NCBI
T2T-CHM13v2.01076,656,859 - 77,428,762 (+)NCBI
Sequence:
RefSeq Acc Id: NR_131178
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381075,647,509 - 76,560,168 (+)NCBI
CHM1_11077,689,513 - 78,599,704 (+)NCBI
T2T-CHM13v2.01076,521,590 - 77,428,762 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001292510 (Get FASTA)   NCBI Sequence Viewer  
  NP_114413 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG44729 (Get FASTA)   NCBI Sequence Viewer  
  EAW54585 (Get FASTA)   NCBI Sequence Viewer  
  EAW54586 (Get FASTA)   NCBI Sequence Viewer  
  EAW54587 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000361577
  ENSP00000361577.1
  ENSP00000480240
GenBank Protein Q9H2I8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_114413   ⟸   NM_032024
- Peptide Label: isoform 2
- UniProtKB: B1AVW6 (UniProtKB/Swiss-Prot),   Q9H2I8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001292510   ⟸   NM_001305581
- Peptide Label: isoform 1
- UniProtKB: A0A087WWI0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361577   ⟸   ENST00000372499
Ensembl Acc Id: ENSP00000482991   ⟸   ENST00000611306
Ensembl Acc Id: ENSP00000480240   ⟸   ENST00000611255
Ensembl Acc Id: ENSP00000472558   ⟸   ENST00000496424
Protein Domains
LRRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H2I8-F1-model_v2 AlphaFold Q9H2I8 1-198 view protein structure

Promoters
RGD ID:7217931
Promoter ID:EPDNEW_H14711
Type:initiation region
Name:C10orf11_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14712  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381075,430,330 - 75,430,390EPDNEW
RGD ID:7217933
Promoter ID:EPDNEW_H14712
Type:multiple initiation site
Name:C10orf11_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14711  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381075,782,813 - 75,782,873EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23405 AgrOrtholog
COSMIC LRMDA COSMIC
Ensembl Genes ENSG00000148655 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372499 ENTREZGENE
  ENST00000372499.5 UniProtKB/Swiss-Prot
  ENST00000611255 ENTREZGENE
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000148655 GTEx
HGNC ID HGNC:23405 ENTREZGENE
Human Proteome Map LRMDA Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot
  LRMDA UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:83938 UniProtKB/Swiss-Prot
NCBI Gene 83938 ENTREZGENE
OMIM 614537 OMIM
PANTHER LEUCINE-RICH MELANOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN UniProtKB/Swiss-Prot
  PTHR46282 UniProtKB/Swiss-Prot
Pfam LRR_9 UniProtKB/Swiss-Prot
PharmGKB PA134899373 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
UniProt A0A087WWI0 ENTREZGENE, UniProtKB/TrEMBL
  B1AVW6 ENTREZGENE
  LRMDA_HUMAN UniProtKB/Swiss-Prot
  M0R2H0_HUMAN UniProtKB/TrEMBL
  Q9H2I8 ENTREZGENE
UniProt Secondary B1AVW6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-04-11 LRMDA  leucine rich melanocyte differentiation associated  C10orf11  chromosome 10 open reading frame 11  Symbol and/or name change 5135510 APPROVED