GWAS1052073_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1052073_H (blood protein measurement QTL GWAS1052073 (human)) Homo sapiens

Symbol: GWAS1052073_H
Name: blood protein measurement QTL GWAS1052073 (human)
RGD ID: 407403097
Trait: blood protein measurement
Measurement Type: blood protein measurement   (CMO:0000028)    
LOD Score: Not Available
P Value: 2E-108
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381951,224,706 - 51,224,707RGD_MAPPER_PIPELINEGRCh38
GRCh371951,727,962 - 51,727,963RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1052073_HHumanblood protein measurement  IAGPrs3865444405850206Based on the EFO term IDGWAS_CATALOGPMID:32929287

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1052073_HHumanblood protein measurement  IAGPrs3865444405850206 GWAS_CATALOGPMID:32929287
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

References

References - curated
# Reference Title Reference Citation
1. RGD GWAS Catalog Import Pipeline RGD pipeline to import data from GWAS Catalog and create human variant and QTL records

Region

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
38667249LOC107985327uncharacterized LOC107985327195118690851271167Human
1347694CD33CD33 molecule195121107651240016Human

Position Markers

Peak: (rs3865444)
Human AssemblyChrPosition (strand)Source
GRCh381951,224,706 - 51,224,707RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407403080GWAS1052056_Hblood protein measurement QTL GWAS1052056 (human)9e-189blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
406965445GWAS614421_HAlzheimer disease QTL GWAS614421 (human)2e-09Alzheimer disease195122470651224707Human
407406477GWAS1055453_Hmonocyte count QTL GWAS1055453 (human)9e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)195122470651224707Human
407220547GWAS869523_Hplatelet count QTL GWAS869523 (human)2e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)195122470651224707Human
407402816GWAS1051792_Hblood protein measurement QTL GWAS1051792 (human)3e-145blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
407415617GWAS1064593_Hplatelet count QTL GWAS1064593 (human)1e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)195122470651224707Human
407375810GWAS1024786_HC-reactive protein measurement QTL GWAS1024786 (human)4e-18C-reactive protein measurementblood C-reactive protein level (CMO:0003160)195122470651224707Human
407405508GWAS1054484_Hobsolete_red blood cell distribution width QTL GWAS1054484 (human)1e-11obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)195122470651224707Human
407057613GWAS706589_Hplatelet count QTL GWAS706589 (human)1e-37platelet quantity (VT:0003179)platelet count (CMO:0000029)195122470651224707Human
407403078GWAS1052054_Hblood protein measurement QTL GWAS1052054 (human)3e-187blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407218644GWAS867620_Hreticulocyte count QTL GWAS867620 (human)3e-10reticulocyte counttotal reticulocyte count (CMO:0003020)195122470651224707Human
407403097GWAS1052073_Hblood protein measurement QTL GWAS1052073 (human)2e-108blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
407384540GWAS1033516_Hobsolete_red blood cell distribution width QTL GWAS1033516 (human)6e-11obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)195122470651224707Human
407400156GWAS1049132_Hmyeloid white cell count QTL GWAS1049132 (human)4e-21myeloid white cell countwhite blood cell count (CMO:0000027)195122470651224707Human
407400157GWAS1049133_Hmyeloid white cell count QTL GWAS1049133 (human)2e-21myeloid white cell countwhite blood cell count (CMO:0000027)195122470651224707Human
407403089GWAS1052065_Hblood protein measurement QTL GWAS1052065 (human)1e-190blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
407392146GWAS1041122_Hmyeloid cell surface antigen CD33 measurement QTL GWAS1041122 (human)6e-26myeloid cell surface antigen CD33 measurement195122470651224707Human
407403091GWAS1052067_Hblood protein measurement QTL GWAS1052067 (human)8e-184blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
407403093GWAS1052069_Hblood protein measurement QTL GWAS1052069 (human)2e-191blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
407403095GWAS1052071_Hblood protein measurement QTL GWAS1052071 (human)2e-183blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
406885794GWAS534770_HAlzheimer disease QTL GWAS534770 (human)0.000007Alzheimer disease195122470651224707Human
407367717GWAS1016693_Hplatelet count QTL GWAS1016693 (human)7e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)195122470651224707Human
407382570GWAS1031546_Heosinophil count QTL GWAS1031546 (human)8e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)195122470651224707Human
407370147GWAS1019123_Hleukocyte count QTL GWAS1019123 (human)2e-10leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)195122470651224707Human
407386669GWAS1035645_Hplatelet count QTL GWAS1035645 (human)2e-37platelet quantity (VT:0003179)platelet count (CMO:0000029)195122470651224707Human
406885798GWAS534774_HAlzheimer disease QTL GWAS534774 (human)4e-08Alzheimer disease195122470651224707Human
407221027GWAS870003_Hreticulocyte measurement QTL GWAS870003 (human)7e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)195122470651224707Human
407053220GWAS702196_Hlymphocyte count QTL GWAS702196 (human)1e-24lymphocyte countblood lymphocyte count (CMO:0000031)195122470651224707Human
407400162GWAS1049138_Hmyeloid white cell count QTL GWAS1049138 (human)1e-16myeloid white cell countwhite blood cell count (CMO:0000027)195122470651224707Human
407417891GWAS1066867_Hmonocyte count QTL GWAS1066867 (human)3e-14monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)195122470651224707Human
407400164GWAS1049140_Hmyeloid white cell count QTL GWAS1049140 (human)1e-12myeloid white cell countwhite blood cell count (CMO:0000027)195122470651224707Human
407415268GWAS1064244_Hlymphocyte count QTL GWAS1064244 (human)8e-16lymphocyte countblood lymphocyte count (CMO:0000031)195122470651224707Human
407400165GWAS1049141_Hmyeloid white cell count QTL GWAS1049141 (human)8e-35myeloid white cell countwhite blood cell count (CMO:0000027)195122470651224707Human
407400166GWAS1049142_Hmyeloid white cell count QTL GWAS1049142 (human)1e-40myeloid white cell countwhite blood cell count (CMO:0000027)195122470651224707Human
407234026GWAS883002_Hlate-onset Alzheimers disease QTL GWAS883002 (human)0.000002late-onset Alzheimers disease195122470651224707Human
407403320GWAS1052296_Hblood protein measurement QTL GWAS1052296 (human)2e-153blood protein measurementblood protein measurement (CMO:0000028)195122470651224707Human
407351606GWAS1000582_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS1000582 (human)6e-09Alzheimer disease, family history of Alzheimer’s disease195122470651224707Human
407055344GWAS704320_Heosinophil count QTL GWAS704320 (human)2e-14eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)195122470651224707Human
406992757GWAS641733_HAlzheimer disease QTL GWAS641733 (human)0.000003Alzheimer disease195122470651224707Human
407209528GWAS858504_Hplatelet crit QTL GWAS858504 (human)1e-26platelet critplateletcrit (CMO:0001349)195122470651224707Human


Additional Information

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
The highlighted row represents the current QTL
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS534770_H GCST009019 Alzheimer's disease 4,120 Spanish ancestry cases, 11,999 cases, 3,289 Spanish ancestry controls, 9,236 controls ? NR 0.000007 5.155 rs3865444 1.1111112 PMID:31473137
GWAS534774_H GCST009021 Alzheimer's disease 4,120 Spanish ancestry cases, 17,008 cases, 3,289 Spanish ancestry controls, 37,154 controls ? NR 4E-8 7.398 rs3865444 1.0869565 PMID:31473137
GWAS614421_H GCST001026 Alzheimer's disease (late onset) 8,309 European ancestry cases, 7,366 European ancestry controls ? 0.70 2E-9 8.699 rs3865444 1.1 PMID:21460841
None Available GCST90002369 Red cell distribution width 531,774 European ancestry individuals C 0.677932 1E-11 11 rs3865444 0.013596 Red cell distribution width (EFO:0009188)
 PMID:32888493
GWAS641733_H GCST002245 Alzheimer's disease (late onset) 17,008 European ancestry cases, 37,154 European ancestry controls C 0.693 0.000003 5.523 rs3865444 1.06 PMID:24162737
GWAS702196_H GCST90002388 Lymphocyte count 408,112 British individuals A 0.323904 1E-24 24 rs3865444 0.024074517 lymphocyte count (EFO:0004587)
 PMID:32888494
GWAS704320_H GCST007065 Eosinophil counts approximately 440,000 European ancestry individuals ? NR 2E-14 13.699 rs3865444 N/A eosinophil count (EFO:0004842)
 PMID:30595370
GWAS706589_H GCST90002357 Platelet count 542,827 European ancestry individuals A 0.321718 1E-37 37 rs3865444 0.025179 platelet count (EFO:0004309)
 PMID:32888493
None Available GCST90002372 Red cell distribution width 563,352 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals C 0.68546 6E-11 10.222 rs3865444 N/A Red cell distribution width (EFO:0009188)
 PMID:32888493
GWAS858504_H GCST90002400 Plateletcrit 408,112 British individuals A 0.323931 1E-26 26 rs3865444 0.025752926 platelet crit (EFO:0007985)
 PMID:32888494
GWAS867620_H GCST90002405 Reticulocyte count 408,112 British individuals A 0.323831 3E-10 9.523 rs3865444 0.015058698 reticulocyte count (EFO:0007986)
 PMID:32888494
GWAS869523_H GCST90002402 Platelet count 408,112 British individuals A 0.323924 2E-23 22.699 rs3865444 0.023945916 platelet count (EFO:0004309)
 PMID:32888494
GWAS870003_H GCST90002406 Reticulocyte fraction of red cells 408,112 British individuals A 0.323827 7E-13 12.155 rs3865444 0.01718904 reticulocyte measurement (EFO:0010700)
 PMID:32888494
GWAS883002_H GCST005549 Alzheimer's disease (late onset) up to 16,097 European ancestry cases, up to 18,077 European ancestry controls ? NR 0.000002 5.699 rs3865444 1.0942049 late-onset Alzheimers disease (EFO:1001870)
 PMID:28714976
None Available GCST007319 Alzheimer's disease (late onset) 24,087 European ancestry cases, 55,058 European ancestry controls A NR 4E-8 7.398 rs3865444 5.4802556 PMID:30617256
GWAS1000582_H GCST007320 Alzheimer's disease or family history of Alzheimer's disease 24,087 European ancestry late-onset Alzheimer's disease cases, 47,793 European ancestry individuals with family history of Alzheimer's disease, 383,378 European ancestry controls A 0.32 6E-9 8.222 rs3865444 5.81 family history of Alzheimer’s disease (EFO:0009268)
 PMID:30617256
GWAS1016693_H GCST004603 Platelet count 166,066 European ancestry individuals A 0.3242 7E-9 8.155 rs3865444 0.02247701 platelet count (EFO:0004309)
 PMID:27863252
GWAS1019123_H GCST004610 White blood cell count 172,435 European ancestry individuals A 0.3241 2E-10 9.699 rs3865444 0.02439036 leukocyte count (EFO:0004308)
 PMID:27863252
GWAS1024786_H GCST009777 C-reactive protein levels 418,642 British ancestry individuals C 0.674506 4E-18 17.398 rs3865444 0.0191022 C-reactive protein measurement (EFO:0004458)
 PMID:31900758
GWAS1031546_H GCST90002381 Eosinophil counts 408,112 British individuals A 0.323992 8E-13 12.097 rs3865444 0.01688486 eosinophil count (EFO:0004842)
 PMID:32888494
GWAS1035645_H GCST90002361 Platelet count 721,201 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.290281 2E-37 36.699 rs3865444 N/A platelet count (EFO:0004309)
 PMID:32888493
GWAS1041122_H GCST90237245 Myeloid cell surface antigen CD33 level in Chronic kidney disease with hypertension and no diabetes (3166_92) 466 African American individuals A 0.09 6E-26 25.222 rs3865444 1.09 myeloid cell surface antigen CD33 measurement (EFO:0008238)
 PMID:35870639
GWAS1049132_H GCST90001517 CD33+ HLA DR+ Absolute Count 1,858 Sardinian (founder/genetic isolate) ancestry individuals A 0.21313 4E-21 20.398 rs3865444 0.3696 myeloid white cell count (EFO:0007988)
 PMID:32929287
GWAS1049133_H GCST90001518 CD33+ HLA DR+ CD14- Absolute Count 1,858 Sardinian (founder/genetic isolate) ancestry individuals A 0.21313 2E-21 20.699 rs3865444 0.3767 myeloid white cell count (EFO:0007988)
 PMID:32929287
GWAS1049138_H GCST90001520 CD33+ HLA DR+ CD14dim Absolute Count 1,858 Sardinian (founder/genetic isolate) ancestry individuals A 0.21313 1E-16 16 rs3865444 0.3278 myeloid white cell count (EFO:0007988)
 PMID:32929287
GWAS1049140_H GCST90001524 Granulocytic Myeloid-Derived Suppressor Cells Absolute Count 1,856 Sardinian (founder/genetic isolate) ancestry individuals A 0.21282 1E-12 12 rs3865444 0.2687 myeloid white cell count (EFO:0007988)
 PMID:32929287
GWAS1049141_H GCST90001532 Basophil Absolute Count 1,857 Sardinian (founder/genetic isolate) ancestry individuals A 0.21325 8E-35 34.097 rs3865444 0.4855 myeloid white cell count (EFO:0007988)
 PMID:32929287
GWAS1049142_H GCST90001533 Basophil %CD33dim HLA DR- CD66b- 1,857 Sardinian (founder/genetic isolate) ancestry individuals A 0.21325 1E-40 40 rs3865444 0.5183 myeloid white cell count (EFO:0007988)
 PMID:32929287
GWAS1051792_H GCST90001953 CD33 on CD33dim HLA DR- 1,558 Sardinian (founder/genetic isolate) ancestry individuals A 0.18453 3E-145 144.523 rs3865444 1.138 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052054_H GCST90001956 CD33 on CD33+ HLA DR+ 1,579 Sardinian (founder/genetic isolate) ancestry individuals A 0.19379 3E-187 186.523 rs3865444 1.219 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052056_H GCST90001957 CD33 on CD33+ HLA DR+ CD14- 1,578 Sardinian (founder/genetic isolate) ancestry individuals A 0.1936 9E-189 188.046 rs3865444 1.223 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052065_H GCST90001946 CD33 on CD14+ monocyte 1,634 Sardinian (founder/genetic isolate) ancestry individuals A 0.21206 1E-190 190 rs3865444 1.143 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052067_H GCST90001947 CD33 on CD33+ HLA DR+ CD14dim 1,577 Sardinian (founder/genetic isolate) ancestry individuals A 0.19341 8E-184 183.097 rs3865444 1.214 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052069_H GCST90001948 CD33 on CD33dim HLA DR+ CD11b+ 1,633 Sardinian (founder/genetic isolate) ancestry individuals A 0.21219 2E-191 190.699 rs3865444 1.139 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052071_H GCST90001949 CD33 on CD33dim HLA DR+ CD11b- 1,634 Sardinian (founder/genetic isolate) ancestry individuals A 0.21206 2E-183 182.699 rs3865444 1.119 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052073_H GCST90001951 CD33 on CD66b++ myeloid cell 1,464 Sardinian (founder/genetic isolate) ancestry individuals A 0.20936 2E-108 107.699 rs3865444 0.9497 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1052296_H GCST90001952 CD33 on Monocytic Myeloid-Derived Suppressor Cells 1,569 Sardinian (founder/genetic isolate) ancestry individuals A 0.18961 2E-153 152.699 rs3865444 1.151 blood protein measurement (EFO:0007937)
 PMID:32929287
GWAS1055453_H GCST90002393 Monocyte count 408,112 British individuals A 0.323773 9E-15 14.046 rs3865444 0.01831206 monocyte count (EFO:0005091)
 PMID:32888494
GWAS1064244_H GCST90018962 Lymphocyte count 349,856 European ancestry individuals, 95,717 East Asian ancestry individuals A NR 8E-16 15.097 rs3865444 0.0185 lymphocyte count (EFO:0004587)
 PMID:34594039
GWAS1064593_H GCST90018969 Platelet count 350,474 European ancestry individuals, 148,623 East Asian ancestry individuals A NR 1E-20 20 rs3865444 0.0198 platelet count (EFO:0004309)
 PMID:34594039
GWAS1066867_H GCST90018967 Monocyte count 349,856 European ancestry individuals, 95,119 East Asian ancestry individuals A NR 3E-14 13.523 rs3865444 0.0171 monocyte count (EFO:0005091)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90001951 GWAS Catalog

RGD Curation Notes
Note Type Note Reference