GWAS995783_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS995783_H (total cholesterol measurement QTL GWAS995783 (human)) Homo sapiens

Symbol: GWAS995783_H
Name: total cholesterol measurement QTL GWAS995783 (human)
RGD ID: 407346807
Trait: total cholesterol measurement
Measurement Type: blood total cholesterol level   (CMO:0000051)    
LOD Score: Not Available
P Value: 8.0E-25
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38858,493,931 - 58,493,932RGD_MAPPER_PIPELINEGRCh38
GRCh37859,406,490 - 59,406,491RGD_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)
GWAS995783_HHumanblood total cholesterol level  IAGPrs112784971405850206Based on the EFO term IDGWAS_CATALOGPMID:34887591

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS995783_HHumantotal cholesterol measurement  IAGPrs112784971405850206 GWAS_CATALOGPMID:34887591
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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
69210CYP7A1cytochrome P450 family 7 subfamily A member 185849017858500163Human

Position Markers

Peak: (rs112784971)
Human AssemblyChrPosition (strand)Source
GRCh38858,493,931 - 58,493,932RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406923297GWAS572273_Htriglyceride measurement QTL GWAS572273 (human)8e-09triglyceride measurementblood triglyceride level (CMO:0000118)85849393158493932Human
407248901GWAS897877_Hcholelithiasis QTL GWAS897877 (human)9e-14cholelithiasis85849393158493932Human
406931044GWAS580020_Htotal cholesterol measurement QTL GWAS580020 (human)2e-15total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
406902025GWAS551001_Hlow density lipoprotein cholesterol measurement QTL GWAS551001 (human)4e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407150927GWAS799903_Htotal cholesterol measurement QTL GWAS799903 (human)5e-41total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407318444GWAS967420_Hlow density lipoprotein cholesterol measurement QTL GWAS967420 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407184552GWAS833528_HHMG CoA reductase inhibitor use measurement QTL GWAS833528 (human)1e-09HMG CoA reductase inhibitor use measurement85849393158493932Human
406915151GWAS564127_Hlow density lipoprotein cholesterol measurement QTL GWAS564127 (human)3e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407346807GWAS995783_Htotal cholesterol measurement QTL GWAS995783 (human)8e-25total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407156343GWAS805319_Hlow density lipoprotein cholesterol measurement QTL GWAS805319 (human)4e-25low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407318803GWAS967779_Hnon-high density lipoprotein cholesterol measurement QTL GWAS967779 (human)2e-17non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)85849393158493932Human
407321330GWAS970306_Hlow density lipoprotein cholesterol measurement QTL GWAS970306 (human)2e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
406921371GWAS570347_Htotal cholesterol measurement QTL GWAS570347 (human)1e-20total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407330141GWAS979117_Htotal cholesterol measurement QTL GWAS979117 (human)1e-16total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407213688GWAS862664_Hlow density lipoprotein cholesterol measurement QTL GWAS862664 (human)8e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human


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
GWAS551001_H GCST90134520 LDL cholesterol levels 58,701 Korean ancestry individuals T NR 4E-10 9.398 rs112784971 1.28 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:35884923
GWAS564127_H GCST90278638 Low density lipoprotein cholesterol levels 92,615 Taiwanese ancestry individuals ? NR 3E-15 14.523 rs112784971 N/A low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:38116116
GWAS570347_H GCST90278644 Total cholesterol levels 92,615 Taiwanese ancestry individuals ? NR 1E-20 20 rs112784971 N/A total cholesterol measurement (EFO:0004574)
 PMID:38116116
GWAS572273_H GCST90278645 Triglyceride levels 92,615 Taiwanese ancestry individuals ? NR 8E-9 8.097 rs112784971 N/A triglyceride measurement (EFO:0004530)
 PMID:38116116
GWAS580020_H GCST90134518 Total cholesterol levels 58,701 Korean ancestry individuals T NR 2E-15 14.699 rs112784971 1.8 total cholesterol measurement (EFO:0004574)
 PMID:35884923
GWAS799903_H GCST90244008 Total cholesterol levels 288,127 East Asian ancestry individuals T 0.2888 5E-41 40.302 rs112784971 0.0418 total cholesterol measurement (EFO:0004574)
 PMID:36333282
GWAS805319_H GCST90244006 LDL cholesterol levels 288,127 East Asian ancestry individuals T 0.2888 4E-25 24.398 rs112784971 0.037 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36333282
GWAS833528_H GCST90018769 Medication use (HMG CoA reductase inhibitors) 33,295 East Asian ancestry cases, 145,431 East Asian ancestry controls T 0.300321491 1E-9 9 rs112784971 0.06102635 HMG CoA reductase inhibitor use measurement (EFO:0009932)
 PMID:34594039
GWAS862664_H GCST90179477 LDL cholesterol levels 75,441 East Asian ancestry individuals ? NR 8E-12 11.097 rs112784971 0.0048 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36142332
GWAS897877_H GCST90018599 Cholelithiasis 9,305 East Asian ancestry cases, 168,253 East Asian ancestry controls T 0.301764092 9E-14 13.046 rs112784971 0.1263853 cholelithiasis (EFO:0004799)
 PMID:34594039
GWAS967420_H GCST90239657 Low density lipoprotein cholesterol levels 146,492 East Asian ancestry individuals T 0.243616 3E-9 8.523 rs112784971 0.0363325 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:34887591
GWAS967779_H GCST90239669 Non-HDL cholesterol levels 146,492 East Asian ancestry individuals T 0.259956 2E-17 16.699 rs112784971 0.0444454 non-high density lipoprotein cholesterol measurement (EFO:0005689)
 PMID:34887591
GWAS970306_H GCST90239612 Low density lipoprotein cholesterol levels 76,650 Taiwanese ancestry individuals ? NR 2E-13 12.699 rs112784971 1.36615 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36329257
GWAS979117_H GCST90239609 Total cholesterol levels 76,578 Taiwanese ancestry individuals ? NR 1E-16 16 rs112784971 1.69429 total cholesterol measurement (EFO:0004574)
 PMID:36329257
GWAS995783_H GCST90239675 Total cholesterol levels 146,492 East Asian ancestry individuals T 0.269527 8E-25 24.097 rs112784971 0.0462477 total cholesterol measurement (EFO:0004574)
 PMID:34887591
Database Acc Id Source(s)
GWAS Catalog GCST90239675 GWAS Catalog

RGD Curation Notes
Note Type Note Reference