GWAS909181_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS909181_H (skin pigmentation QTL GWAS909181 (human)) Homo sapiens

Symbol: GWAS909181_H
Name: skin pigmentation QTL GWAS909181 (human)
RGD ID: 407260205
Trait: skin pigmentation trait   (VT:0002095)    
LOD Score: Not Available
P Value: 5.0E-50
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381527,954,896 - 27,954,897RGD_MAPPER_PIPELINEGRCh38
GRCh371528,200,042 - 28,200,043RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS909181_HHumanskin pigmentation trait  IAGPrs728404405850206Based on the EFO term IDGWAS_CATALOGPMID:38849341

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS909181_HHumanskin pigmentation  IAGPrs728404405850206 GWAS_CATALOGPMID:38849341
Experimental Data Annotations     Click to see Annotation Detail View

Vertebrate Trait

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
1352949OCA2OCA2 melanosomal transmembrane protein152771900828099315Human

Position Markers

Peak: (rs728404)
Human AssemblyChrPosition (strand)Source
GRCh381527,954,896 - 27,954,897RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407260197GWAS909173_Hskin pigmentation QTL GWAS909173 (human)8e-09skin pigmentation trait (VT:0002095)152795489627954897Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
407260205GWAS909181_Hskin pigmentation QTL GWAS909181 (human)5e-50skin pigmentation trait (VT:0002095)152795489627954897Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
407261545GWAS910521_Hskin pigmentation QTL GWAS910521 (human)1e-62skin pigmentation trait (VT:0002095)152795489627954897Human


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
GWAS909173_H GCST90320258 Skin red/green component 48,433 East Asian ancestry individuals C 0.117 8E-9 8.097 rs728404 0.061 skin pigmentation (EFO:0003784)
 PMID:38849341
GWAS909181_H GCST90320259 Skin yellow/blue component 48,433 East Asian ancestry individuals C 0.117 5E-50 49.302 rs728404 0.157 skin pigmentation (EFO:0003784)
 PMID:38849341
GWAS910521_H GCST90320257 Skin luminance 48,433 East Asian ancestry individuals C 0.117 1E-62 62 rs728404 0.178 skin pigmentation (EFO:0003784)
 PMID:38849341
Database Acc Id Source(s)
GWAS Catalog GCST90320259 GWAS Catalog

RGD Curation Notes
Note Type Note Reference