GWAS1056258_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1056258_H (mean reticulocyte volume QTL GWAS1056258 (human)) Homo sapiens

Symbol: GWAS1056258_H
Name: mean reticulocyte volume QTL GWAS1056258 (human)
RGD ID: 407407282
Trait: reticulocyte morphology trait   (VT:0002424)    
Measurement Type: mean corpuscular volume   (CMO:0000038)    
LOD Score: Not Available
P Value: 3.0E-12
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38774,915,244 - 74,915,245RGD_MAPPER_PIPELINEGRCh38
GRCh37774,331,333 - 74,331,334RGD_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)
GWAS1056258_HHumanmean corpuscular volume  IAGPrs75518008405850206Based on the EFO term IDGWAS_CATALOGPMID:32888494

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1056258_HHumanreticulocyte morphology trait  IAGPrs75518008405850206Based on the EFO term IDGWAS_CATALOGPMID:32888494

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1056258_HHumanmean reticulocyte volume  IAGPrs75518008405850206 GWAS_CATALOGPMID:32888494
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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
1354240PMS2P5PMS1 homolog 2, mismatch repair system component pseudogene 577489076874921138Human

Position Markers

Peak: (rs75518008)
Human AssemblyChrPosition (strand)Source
GRCh38774,915,244 - 74,915,245RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407407282GWAS1056258_Hmean reticulocyte volume QTL GWAS1056258 (human)3e-12reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)77491524474915245Human


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
GWAS1056258_H GCST90002396 Mean reticulocyte volume 408,112 British individuals T 0.227846 3E-12 11.523 rs75518008 0.01991552 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
Database Acc Id Source(s)
GWAS Catalog GCST90002396 GWAS Catalog

RGD Curation Notes
Note Type Note Reference