GWAS692864_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS692864_H (chronic obstructive pulmonary disease QTL GWAS692864 (human)) Homo sapiens

Symbol: GWAS692864_H
Name: chronic obstructive pulmonary disease QTL GWAS692864 (human)
RGD ID: 407043888
Trait: chronic obstructive pulmonary disease
LOD Score: Not Available
P Value: 3.0E-13
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38124,914,625 - 24,914,626RGD_MAPPER_PIPELINEGRCh38
GRCh37125,241,116 - 25,241,117RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
1351530RUNX3RUNX family transcription factor 312489951124965138Human
155633309LOC127268142H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25240971-2524148612491448024914995Human

Position Markers

Peak: (rs9438876)
Human AssemblyChrPosition (strand)Source
GRCh38124,914,625 - 24,914,626RGD_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
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407043888GWAS692864_Hchronic obstructive pulmonary disease QTL GWAS692864 (human)3e-13chronic obstructive pulmonary disease12491462524914626Human
407187633GWAS836609_HFEV/FVC ratio QTL GWAS836609 (human)4e-14FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)12491462524914626Human
406995492GWAS644468_Hbody height QTL GWAS644468 (human)1e-08body height (VT:0001253)body height (CMO:0000106)12491462524914626Human
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
407211688GWAS860664_HFEV/FVC ratio QTL GWAS860664 (human)2e-14FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)12491462524914626Human


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
GWAS644468_H GCST007841 Height approximately 458,000 European ancestry individuals ? NR 1E-8 8 rs9438876 N/A body height (EFO:0004339)
 PMID:30595370
GWAS692864_H GCST90244098 Chronic obstructive pulmonary disease liability (machine learning-based score) 325,027 European ancestry individuals A NR 3E-13 12.523 rs9438876 0.0152315 chronic obstructive pulmonary disease (EFO:0000341)
 PMID:37069358
GWAS836609_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 0.514 4E-14 13.398 rs9438876 7.57 FEV/FVC ratio (EFO:0004713)
 PMID:36914875
GWAS860664_H GCST007080 Lung function (FEV1/FVC) approximately 370,000 European ancestry individuals ? NR 2E-14 13.699 rs9438876 N/A FEV/FVC ratio (EFO:0004713)
 PMID:30595370
Database Acc Id Source(s)
GWAS Catalog GCST90244098 GWAS Catalog

RGD Curation Notes
Note Type Note Reference