GWAS925145_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS925145_H (descending aortic diameter QTL GWAS925145 (human)) Homo sapiens

Symbol: GWAS925145_H
Name: descending aortic diameter QTL GWAS925145 (human)
RGD ID: 407276169
Trait: descending aortic diameter
LOD Score: Not Available
P Value: 1.0E-12
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381540,363,243 - 40,363,244RGD_MAPPER_PIPELINEGRCh38
GRCh371540,655,444 - 40,655,445RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS925145_HHumandescending aortic diameter  IAGPrs12913300405850206 GWAS_CATALOGPMID:34837083
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
1319977DISP2dispatched RND transporter family member 2154035821940378621Human
151668431LOC124903472uncharacterized LOC124903472154035990640377648Human

Position Markers

Peak: (rs12913300)
Human AssemblyChrPosition (strand)Source
GRCh381540,363,243 - 40,363,244RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
407292979GWAS941955_Haortic measurement QTL GWAS941955 (human)1e-09aortic measurementaorta measurement (CMO:0001474)154036324340363244Human
407284097GWAS933073_Hdescending aortic diameter QTL GWAS933073 (human)3e-11descending aortic diameter154036324340363244Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
407320425GWAS969401_Haortic measurement QTL GWAS969401 (human)7e-09aortic measurementaorta measurement (CMO:0001474)154036324340363244Human
407276169GWAS925145_Hdescending aortic diameter QTL GWAS925145 (human)1e-12descending aortic diameter154036324340363244Human


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
GWAS925145_H GCST90094401 Descending thoracic aortic diameter 34,532 European ancestry individuals, 5,156 individuals C 0.83 1E-12 12 rs12913300 0.052 descending aortic diameter (EFO:0021788)
 PMID:34837083
GWAS933073_H GCST90094403 Descending thoracic aortic diameter 34,532 European ancestry individuals C 0.829254 3E-11 10.523 rs12913300 0.0514793 descending aortic diameter (EFO:0021788)
 PMID:34837083
GWAS941955_H GCST90137451 Descending aorta maximum area (MTAG) 32,590 European ancestry individuals C 0.83 1E-9 9 rs12913300 4.31 aortic measurement (EFO:0020865)
 PMID:35922433
GWAS969401_H GCST90137442 Descending aorta maximum area 32,590 European ancestry individuals C 0.83 7E-9 8.155 rs12913300 4.12 aortic measurement (EFO:0020865)
 PMID:35922433
Database Acc Id Source(s)
GWAS Catalog GCST90094401 GWAS Catalog

RGD Curation Notes
Note Type Note Reference