GWAS689901_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS689901_H (eye colour measurement QTL GWAS689901 (human)) Homo sapiens

Symbol: GWAS689901_H
Name: eye colour measurement QTL GWAS689901 (human)
RGD ID: 407040925
Trait: eye colour measurement
Measurement Type: eye morphological measurement   (CMO:0003080)    
LOD Score: Not Available
P Value: 4.0E-7
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381527,968,704 - 27,968,705RGD_MAPPER_PIPELINEGRCh38
GRCh371528,213,850 - 28,213,851RGD_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)
GWAS689901_HHumaneye morphological measurement  IAGPrs4778219405850206Based on the EFO term IDGWAS_CATALOGPMID:30664655

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS689901_HHumaneye colour measurement  IAGPrs4778219405850206 GWAS_CATALOGPMID:30664655
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
1352949OCA2OCA2 melanosomal transmembrane protein152771900828099315Human

Position Markers

Peak: (rs4778219)
Human AssemblyChrPosition (strand)Source
GRCh381527,968,704 - 27,968,705RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
407040936GWAS689912_Heye colour measurement QTL GWAS689912 (human)4e-11eye colour measurementeye morphological measurement (CMO:0003080)152796870427968705Human
407040511GWAS689487_Hskin pigmentation measurement QTL GWAS689487 (human)3e-09skin pigmentation measurement152796870427968705Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
407040925GWAS689901_Heye colour measurement QTL GWAS689901 (human)0.0000004eye colour measurementeye morphological measurement (CMO:0003080)152796870427968705Human


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
GWAS689487_H GCST007452 Skin pigmentation 6,236 Latin American individuals ? NR 3E-9 8.523 rs4778219 N/A skin pigmentation measurement (EFO:0007009)
 PMID:30664655
GWAS689901_H GCST007453 Eye color 6,236 Latin American individuals ? NR 4E-7 6.398 rs4778219 N/A eye colour measurement (EFO:0009764)
 PMID:30664655
GWAS689912_H GCST007455 Eye color (brightness) 6,236 Latin American individuals ? NR 4E-11 10.398 rs4778219 N/A eye colour measurement (EFO:0009764)
 PMID:30664655
Database Acc Id Source(s)
GWAS Catalog GCST007453 GWAS Catalog

RGD Curation Notes
Note Type Note Reference