GWAS781110_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS781110_H (serum gamma-glutamyl transferase measurement QTL GWAS781110 (human)) Homo sapiens

Symbol: GWAS781110_H
Name: serum gamma-glutamyl transferase measurement QTL GWAS781110 (human)
RGD ID: 407132134
Trait: serum gamma-glutamyl transferase measurement
Measurement Type: serum gamma-glutamyltransferase activity level   (CMO:0002241)    
LOD Score: Not Available
P Value: 5.0E-15
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38123,443,181 - 23,443,182RGD_MAPPER_PIPELINEGRCh38
GRCh37123,769,674 - 23,769,675RGD_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)
GWAS781110_HHumanserum gamma-glutamyltransferase activity level  IAGPrs2510072405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS781110_HHumanserum gamma-glutamyl transferase measurement  IAGPrs2510072405850206 GWAS_CATALOGPMID:33462484
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
1346642ASAP3ArfGAP with SH3 domain, ankyrin repeat and PH domain 312342856323484631Human

Position Markers

Peak: (rs2510072)
Human AssemblyChrPosition (strand)Source
GRCh38123,443,181 - 23,443,182RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407133156GWAS782132_Htotal cholesterol measurement QTL GWAS782132 (human)3e-14total cholesterol measurementblood total cholesterol level (CMO:0000051)12344318123443182Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407131606GWAS780582_Hcalcium measurement QTL GWAS780582 (human)1e-09calcium measurementblood calcium level (CMO:0000502)12344318123443182Human
407132134GWAS781110_Hserum gamma-glutamyl transferase measurement QTL GWAS781110 (human)5e-15serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)12344318123443182Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human


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
GWAS780582_H GCST90019500 Calcium levels 313,387 European ancestry individuals, 5,576 African ancestry individuals, 6,696 South Asian ancestry individuals G NR 1E-9 9 rs2510072 0.0241 calcium measurement (EFO:0004838)
 PMID:33462484
GWAS781110_H GCST90019507 Gamma glutamyl transferase levels 342,339 European ancestry individuals, 6,015 African ancestry individuals, 7,336 South Asian ancestry individuals G NR 5E-15 14.302 rs2510072 0.0297 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:33462484
GWAS782132_H GCST90019501 Total cholesterol levels 342,508 European ancestry individuals, 6,014 African ancestry individuals, 7,336 South Asian ancestry individuals G NR 3E-14 13.523 rs2510072 0.0289 total cholesterol measurement (EFO:0004574)
 PMID:33462484
Database Acc Id Source(s)
GWAS Catalog GCST90019507 GWAS Catalog

RGD Curation Notes
Note Type Note Reference