GWAS777352_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS777352_H (hair colour measurement QTL GWAS777352 (human)) Homo sapiens

Symbol: GWAS777352_H
Name: hair colour measurement QTL GWAS777352 (human)
RGD ID: 407128376
Trait: hair colour measurement
Measurement Type: coat/hair color measurement   (CMO:0001808)    
LOD Score: Not Available
P Value: 1.0E-10
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38117,270,928 - 17,270,929RGD_MAPPER_PIPELINEGRCh38
GRCh37117,597,423 - 17,597,424RGD_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)
GWAS777352_HHumancoat/hair color measurement  IAGPrs144080386405850206Based on the EFO term IDGWAS_CATALOGPMID:34737426

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS777352_HHumanhair colour measurement  IAGPrs144080386405850206 GWAS_CATALOGPMID:34737426
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
732756PADI3peptidyl arginine deiminase 311724909817284233Human
329341995LOC129660121ReSE screen-validated silencer GRCh37_chr1:17597192-1759743511727069717270940Human

Position Markers

Peak: (rs144080386)
Human AssemblyChrPosition (strand)Source
GRCh38117,270,928 - 17,270,929RGD_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
406983691GWAS632667_Hhair color QTL GWAS632667 (human)5e-12hair color11727092817270929Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
407128376GWAS777352_Hhair colour measurement QTL GWAS777352 (human)1e-10hair colour measurementcoat/hair color measurement (CMO:0001808)11727092817270929Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human


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
GWAS632667_H GCST006988 Blond vs. brown/black hair color 39,397 British ancestry blond hair individuals, 283,920 British ancestry brown or black hair individuals T 0.008287 5E-12 11.302 rs144080386 1.304 hair color (EFO:0003924)
 PMID:30531825
GWAS777352_H GCST90041836 Hair colour (natural, before greying): Blonde (UKB data field 1747_1) 51,424 European ancestry cases, 403,740 European ancestry controls T 0.008094 1E-10 10 rs144080386 0.24 hair colour measurement (EFO:0007822)
 PMID:34737426
Database Acc Id Source(s)
GWAS Catalog GCST90041836 GWAS Catalog

RGD Curation Notes
Note Type Note Reference