GWAS705884_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS705884_H (ocular sarcoidosis QTL GWAS705884 (human)) Homo sapiens

Symbol: GWAS705884_H
Name: ocular sarcoidosis QTL GWAS705884 (human)
RGD ID: 407056908
Trait: eye integrity trait   (VT:0011107)    
LOD Score: Not Available
P Value: 6.0E-6
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh386163,217,235 - 163,217,236RGD_MAPPER_PIPELINEGRCh38
GRCh376163,638,267 - 163,638,268RGD_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)
GWAS705884_HHumaneye integrity trait  IAGPrs16888819405850206Based on the EFO term IDGWAS_CATALOGPMID:32141793

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS705884_HHumanocular sarcoidosis  IAGPrs16888819405850206 GWAS_CATALOGPMID:32141793
Disease Annotations     Click to see Annotation Detail View

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
1352616PACRGparkin coregulated6162727132163315500Human

Position Markers

Peak: (rs16888819)
Human AssemblyChrPosition (strand)Source
GRCh386163,217,235 - 163,217,236RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
407197843GWAS846819_Herythronate measurement QTL GWAS846819 (human)0.000003erythronate measurement6163217235163217236Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human
407056908GWAS705884_Hocular sarcoidosis QTL GWAS705884 (human)0.000006eye integrity trait (VT:0011107)6163217235163217236Human


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
GWAS705884_H GCST010054 Ocular sarcoidosis 260 African American cases, 1,551 African American controls ? NR 0.000006 5.222 rs16888819 1.7096939 ocular sarcoidosis (EFO:0010723)
 PMID:32141793
GWAS846819_H GCST90133871 Erythronate levels in elite athletes 490 individuals ? NR 0.000003 5.523 rs16888819 0.44132724 erythronate measurement (EFO:0021025)
 PMID:31882771
Database Acc Id Source(s)
GWAS Catalog GCST010054 GWAS Catalog

RGD Curation Notes
Note Type Note Reference