GWAS728634_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS728634_H (high density lipoprotein cholesterol measurement QTL GWAS728634 (human)) Homo sapiens

Symbol: GWAS728634_H
Name: high density lipoprotein cholesterol measurement QTL GWAS728634 (human)
RGD ID: 407079658
Trait: high density lipoprotein cholesterol measurement
Measurement Type: blood high density lipoprotein cholesterol level   (CMO:0000052)    
LOD Score: Not Available
P Value: 5.0E-10
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh387130,760,175 - 130,760,176RGD_MAPPER_PIPELINEGRCh38
GRCh377130,444,934 - 130,444,935RGD_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)
GWAS728634_HHumanblood high density lipoprotein cholesterol level  IAGPrs3996352405850206Based on the EFO term IDGWAS_CATALOGPMID:38448586

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS728634_HHumanhigh density lipoprotein cholesterol measurement  IAGPrs3996352405850206 GWAS_CATALOGPMID:38448586
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
38639820LOC105375508uncharacterized LOC1053755087130734264130853951Human

Position Markers

Peak: (rs3996352)
Human AssemblyChrPosition (strand)Source
GRCh387130,760,175 - 130,760,176RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407090595GWAS739571_Hcholesterol esters in large HDL measurement QTL GWAS739571 (human)2e-10cholesterol esters in large HDL measurement7130760175130760176Human
407410216GWAS1059192_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1059192 (human)2e-13triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)7130760175130760176Human
407379819GWAS1028795_Hleptin measurement, type 2 diabetes mellitus QTL GWAS1028795 (human)2e-09leptin measurement, type 2 diabetes mellitusblood leptin level (CMO:0000779)7130760175130760176Human
407079658GWAS728634_Hhigh density lipoprotein cholesterol measurement QTL GWAS728634 (human)5e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)7130760175130760176Human
407090698GWAS739674_Htotal lipids in large HDL QTL GWAS739674 (human)3e-10total lipids in large HDL7130760175130760176Human
407090953GWAS739929_Hfree cholesterol in large HDL measurement QTL GWAS739929 (human)6e-11free cholesterol in large HDL measurementblood high density lipoprotein cholesterol level (CMO:0000052)7130760175130760176Human
407089224GWAS738200_Htotal cholesterol change measurement, high density lipoprotein cholesterol measurement QTL GWAS738200 (human)1e-10total cholesterol change measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)7130760175130760176Human
407376661GWAS1025637_Hhigh density lipoprotein cholesterol measurement QTL GWAS1025637 (human)2e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)7130760175130760176Human


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
GWAS728634_H GCST90302002 Concentration of large HDL particles 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5261 5E-10 9.302 rs3996352 0.0243 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:38448586
GWAS738200_H GCST90301995 Total cholesterol in large HDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5261 1E-10 10 rs3996352 0.0251 total cholesterol change measurement (EFO:0007806)
high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:38448586
GWAS739571_H GCST90301997 Cholesterol esters in large HDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5261 2E-10 9.699 rs3996352 0.0249 cholesterol esters in large HDL measurement (EFO:0022159)
 PMID:38448586
GWAS739674_H GCST90302001 Total lipids in large HDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5261 3E-10 9.523 rs3996352 0.0247 total lipids in large HDL (EFO:0022189)
 PMID:38448586
GWAS739929_H GCST90301999 Free cholesterol in large HDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5261 6E-11 10.222 rs3996352 0.0256 free cholesterol in large HDL measurement (EFO:0022157)
 PMID:38448586
GWAS1025637_H GCST008685 HDL cholesterol levels up to 23,761 African ancestry individuals, 13,171 Asian ancestry individuals, up to 90,272 European ancestry individuals, 6,620 Hispanic individuals A 0.5568 2E-15 14.699 rs3996352 0.0084 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:30926973
GWAS1028795_H GCST010272 Circulating leptin levels or type 2 diabetes 254,263 individuals ? NR 2E-9 8.699 rs3996352 N/A leptin measurement (EFO:0005000)
 PMID:32341051
GWAS1059192_H GCST90092855 Triglycerides to total lipids ratio in large HDL 115,082 European ancestry individuals A 0.509143 2E-13 12.699 rs3996352 0.0286734 triglycerides:total lipids ratio (EFO:0020947)
high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:35213538
Database Acc Id Source(s)
GWAS Catalog GCST90302002 GWAS Catalog

RGD Curation Notes
Note Type Note Reference