GWAS860397_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS860397_H (FEV/FVC ratio QTL GWAS860397 (human)) Homo sapiens

Symbol: GWAS860397_H
Name: FEV/FVC ratio QTL GWAS860397 (human)
RGD ID: 407211421
Trait: FEV/FVC ratio
Measurement Type: forced expiratory volume to forced vital capacity ratio   (CMO:0000241)    
LOD Score: Not Available
P Value: 1.0E-34
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3813,514,991 - 3,514,992RGD_MAPPER_PIPELINEGRCh38
GRCh3713,431,555 - 3,431,556RGD_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)
GWAS860397_HHumanforced expiratory volume to forced vital capacity ratio  IAGPrs947350405850206Based on the EFO term IDGWAS_CATALOGPMID:30595370

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS860397_HHumanFEV/FVC ratio  IAGPrs947350405850206 GWAS_CATALOGPMID:30595370
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
736662MEGF6multiple EGF like domains 6134879513624786Human

Position Markers

Peak: (rs947350)
Human AssemblyChrPosition (strand)Source
GRCh3813,514,991 - 3,514,992RGD_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
407051184GWAS700160_Hchronic obstructive pulmonary disease QTL GWAS700160 (human)1e-10chronic obstructive pulmonary disease135149913514992Human
407211421GWAS860397_HFEV/FVC ratio QTL GWAS860397 (human)1e-34FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)135149913514992Human
407005960GWAS654936_HFEV/FVC ratio QTL GWAS654936 (human)7e-24FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)135149913514992Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human


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
GWAS654936_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 T 0.103 7E-24 23.155 rs947350 10.079 FEV/FVC ratio (EFO:0004713)
 PMID:36914875
GWAS700160_H GCST90244098 Chronic obstructive pulmonary disease liability (machine learning-based score) 325,027 European ancestry individuals C NR 1E-10 10 rs947350 0.0214731 chronic obstructive pulmonary disease (EFO:0000341)
 PMID:37069358
GWAS860397_H GCST007080 Lung function (FEV1/FVC) approximately 370,000 European ancestry individuals ? NR 1E-34 34 rs947350 N/A FEV/FVC ratio (EFO:0004713)
 PMID:30595370
Database Acc Id Source(s)
GWAS Catalog GCST007080 GWAS Catalog

RGD Curation Notes
Note Type Note Reference