GWAS1365120_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1365120_H (aortic measurement QTL GWAS1365120 (human)) Homo sapiens

Symbol: GWAS1365120_H
Name: aortic measurement QTL GWAS1365120 (human)
RGD ID: 597269046
Trait: aortic measurement
Measurement Type: aorta measurement   (CMO:0001474)    
LOD Score: Not Available
P Value: 2.0E-6
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38612,291,749 - 12,291,750RGD_MAPPER_PIPELINEGRCh38
GRCh37612,291,982 - 12,291,983RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model




Clinical Measurement
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1365120_HHumanaorta measurement  IAGPrs2248580405850206 GWAS_CATALOGPMID:35922433

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1365120_HHumanaortic measurement  IAGPrs2248580405850206 GWAS_CATALOGPMID:35922433

#
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


The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
730848EDN1endothelin 161223051612297194Human


Peak: (rs2248580)
Human AssemblyChrPosition (strand)Source
GRCh38612,291,749 - 12,291,750RGD_MAPPER_PIPELINE


1 to 10 of 13 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
597269046GWAS1365120_Haortic measurement QTL GWAS1365120 (human)0.000002aortic measurementaorta measurement (CMO:0001474)61229174912291750Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
597269280GWAS1365354_Haortic measurement QTL GWAS1365354 (human)1e-08aortic measurementaorta measurement (CMO:0001474)61229174912291750Human

1 to 10 of 13 rows


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
GWAS1365120_H GCST90137452 Ascending aorta minimum area 15,817 European ancestry men ? NR 0.000002 5.699 rs2248580 8.55 aortic measurement (EFO:0020865)
 PMID:35922433
GWAS1365354_H GCST90137454 Ascending aorta minimum area 16,773 European ancestry women ? NR 1E-8 8 rs2248580 8.61 aortic measurement (EFO:0020865)
 PMID:35922433
GWAS1802124_H GCST90018979 Serum creatinine levels 344,104 European ancestry individuals, 150,266 East Asian ancestry individuals A NR 2E-8 7.699 rs2248580 0.0091 serum creatinine amount (OBA:2050096)
 PMID:34594039
Database
Acc Id
Source(s)
GWAS Catalog GCST90137452 GWAS Catalog

Note Type Note Reference