GWAS1039012_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1039012_H (serum gamma-glutamyl transferase measurement QTL GWAS1039012 (human)) Homo sapiens

Symbol: GWAS1039012_H
Name: serum gamma-glutamyl transferase measurement QTL GWAS1039012 (human)
RGD ID: 407390036
Trait: serum gamma-glutamyl transferase measurement
Measurement Type: serum gamma-glutamyltransferase activity level   (CMO:0002241)    
LOD Score: Not Available
P Value: 2E-95
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38552,897,294 - 52,897,295RGD_MAPPER_PIPELINEGRCh38
GRCh37552,193,125 - 52,193,126RGD_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)
GWAS1039012_HHumanserum gamma-glutamyltransferase activity level  IAGPrs4074793405850206Based on the EFO term IDGWAS_CATALOGPMID:38632349

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1039012_HHumanserum gamma-glutamyl transferase measurement  IAGPrs4074793405850206 GWAS_CATALOGPMID:38632349
Experimental Data Annotations     Click to see Annotation Detail View

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
69006ITGA1integrin subunit alpha 155278791652959209Human

Position Markers

Peak: (rs4074793)
Human AssemblyChrPosition (strand)Source
GRCh38552,897,294 - 52,897,295RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407366087GWAS1015063_Hserum gamma-glutamyl transferase measurement QTL GWAS1015063 (human)2e-92serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407359622GWAS1008598_HFEV/FVC ratio QTL GWAS1008598 (human)7e-14FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289729452897295Human
407391245GWAS1040221_Hcoronary artery disease QTL GWAS1040221 (human)1e-09coronary artery disease55289729452897295Human
407399951GWAS1048927_Hcoronary artery disease QTL GWAS1048927 (human)2e-08coronary artery disease55289729452897295Human
407391012GWAS1039988_Hserum alanine aminotransferase measurement QTL GWAS1039988 (human)3e-15serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407139433GWAS788409_Hserum gamma-glutamyl transferase measurement QTL GWAS788409 (human)3e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407356490GWAS1005466_Hserum gamma-glutamyl transferase measurement QTL GWAS1005466 (human)7e-76serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407393816GWAS1042792_Hserum alanine aminotransferase measurement QTL GWAS1042792 (human)2e-12serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407269460GWAS918436_Hheel bone mineral density QTL GWAS918436 (human)4e-17heel bone mineral densitybone mineral density (CMO:0001226)55289729452897295Human
407362741GWAS1011717_Hserum gamma-glutamyl transferase measurement QTL GWAS1011717 (human)2e-11serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407016433GWAS665409_Hserum gamma-glutamyl transferase measurement QTL GWAS665409 (human)2e-16serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407154839GWAS803815_Halkaline phosphatase measurement QTL GWAS803815 (human)6e-11alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)55289729452897295Human
406938804GWAS587780_Hheel bone mineral density QTL GWAS587780 (human)6e-17heel bone mineral densitybone mineral density (CMO:0001226)55289729452897295Human
407331281GWAS980257_Hserum gamma-glutamyl transferase measurement QTL GWAS980257 (human)5e-22serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407376657GWAS1025633_Hserum alanine aminotransferase measurement QTL GWAS1025633 (human)2e-14serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407348061GWAS997037_Hserum gamma-glutamyl transferase measurement QTL GWAS997037 (human)2e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407083679GWAS732655_Hheel bone mineral density QTL GWAS732655 (human)2e-15heel bone mineral densitybone mineral density (CMO:0001226)55289729452897295Human
407390036GWAS1039012_Hserum gamma-glutamyl transferase measurement QTL GWAS1039012 (human)2e-95serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407148922GWAS797898_Hserum alanine aminotransferase measurement QTL GWAS797898 (human)3e-13serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human


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
GWAS587780_H GCST007066 Heel bone mineral density approximately 446,000 European ancestry individuals ? NR 6E-17 16.222 rs4074793 N/A heel bone mineral density (EFO:0009270)
 PMID:30595370
GWAS665409_H GCST006019 Gamma glutamyl transferase levels 118,309 Japanese ancestry individuals ? NR 2E-16 15.699 rs4074793 0.06467 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:29403010
GWAS732655_H GCST006979 Heel bone mineral density 426,824 British ancestry individuals A 0.92478 2E-15 14.699 rs4074793 0.028042 heel bone mineral density (EFO:0009270)
 PMID:30598549
GWAS788409_H GCST001277 Liver enzyme levels (gamma-glutamyl transferase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals G 0.07 3E-10 9.523 rs4074793 5.5 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:22001757
GWAS797898_H GCST90011898 Alanine aminotransferase levels 390,812 European ancestry individuals G 0.075 3E-13 12.523 rs4074793 7.3 serum alanine aminotransferase measurement (EFO:0004735)
 PMID:33547301
GWAS803815_H GCST90011900 Serum alkaline phosphatase levels 390,964 European ancestry individuals G 0.075 6E-11 10.222 rs4074793 6.56 alkaline phosphatase measurement (EFO:0004533)
 PMID:33547301
GWAS918436_H GCST006433 Heel bone mineral density 394,929 European ancestry individuals ? NR 4E-17 16.398 rs4074793 0.032639 heel bone mineral density (EFO:0009270)
 PMID:30048462
GWAS980257_H GCST011349 Gamma glutamyl transferase levels 76,081 European ancestry individuals, 127,395 Japanese ancestry individuals ? NR 5E-22 21.302 rs4074793 0.0727 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:33339817
GWAS997037_H GCST90134483 Liver enzyme levels (gamma-glutamyl transferase) 5,694 African ancestry individuals, 1,988 East Asian ancestry individuals, 336,298 European ancestry individuals, 6,036 South Asian ancestry individuals ? NR 2E-9 8.699 rs4074793 N/A serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:35810165
GWAS1005466_H GCST90018954 Gamma glutamyl transpeptidase 344,104 European ancestry individuals, 133,471 East Asian ancestry individuals G NR 7E-76 75.155 rs4074793 0.0658 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:34594039
GWAS1008598_H GCST90244094 Lung function (FEV1/FVC) 475,645 European ancestry individuals, 8,590 African ancestry individuals, 85,279 East Asian ancestry individuals, 4,270 South Asian ancestry individuals, 14,668 Hispanic or Latin American individuals A 0.926 7E-14 13.155 rs4074793 7.481 FEV/FVC ratio (EFO:0004713)
 PMID:36914875
GWAS1011717_H GCST90278630 Gamma glutamyl transferase levels 92,615 Taiwanese ancestry individuals ? NR 2E-11 10.699 rs4074793 N/A serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:38116116
GWAS1015063_H GCST90013407 Liver enzyme levels (gamma-glutamyl transferase) 437,194 European ancestry individuals A 0.924727 2E-92 91.699 rs4074793 0.0193879 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:33972514
GWAS1025633_H GCST90013405 Liver enzyme levels (alanine transaminase) 437,267 European ancestry individuals A 0.92472 2E-14 13.699 rs4074793 0.00550211 serum alanine aminotransferase measurement (EFO:0004735)
 PMID:33972514
GWAS1039012_H GCST90428730 Gamma glutamyl transferase levels 875,069 European ancestry individuals G NR 2E-95 94.699 rs4074793 0.02 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:38632349
GWAS1039988_H GCST90428729 Alanine aminotransferase levels 1,010,710 European ancestry individuals G NR 3E-15 14.523 rs4074793 0.0058 serum alanine aminotransferase measurement (EFO:0004735)
 PMID:38632349
GWAS1040221_H GCST90132305 Coronary artery disease 190,493 European ancestry cases, 582,775 European ancestry controls, 6,378 Hispanic or Latin American cases, 24,270 Hispanic or Latin American controls, 1,702 African American or Afro-Caribbean cases, 59,507 African American or Afro-Caribbean controls, 29,319 East Asian ancestry cases, 183,134 East Asian ancestry controls A 0.9232 1E-9 9 rs4074793 0.0424 coronary artery disease (EFO:0001645)
 PMID:35915156
GWAS1042792_H GCST90018943 Alanine aminotransferase levels 344,136 European ancestry individuals, 150,545 East Asian ancestry individuals G NR 2E-12 11.699 rs4074793 0.0251 serum alanine aminotransferase measurement (EFO:0004735)
 PMID:34594039
GWAS1048927_H GCST90132314 Coronary artery disease 181,522 European ancestry, unknown cases, 984,168 European ancestry, unknown controls A 0.923 2E-8 7.699 rs4074793 0.949 coronary artery disease (EFO:0001645)
 PMID:36474045
Database Acc Id Source(s)
GWAS Catalog GCST90428730 GWAS Catalog

RGD Curation Notes
Note Type Note Reference