GWAS613253_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS613253_H (reticulocyte count QTL GWAS613253 (human)) Homo sapiens

Symbol: GWAS613253_H
Name: reticulocyte count QTL GWAS613253 (human)
RGD ID: 406964277
Trait: reticulocyte quantity   (VT:0003135)    
Measurement Type: total reticulocyte count   (CMO:0003020)    
LOD Score: Not Available
P Value: 1.0E-23
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38121,664,742 - 21,664,743RGD_MAPPER_PIPELINEGRCh38
GRCh37121,991,235 - 21,991,236RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model




Clinical Measurement
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS613253_HHumantotal reticulocyte count  IAGPrs829375405850206Based on the EFO term IDGWAS_CATALOGPMID:27863252

Vertebrate Trait
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS613253_HHumanreticulocyte quantity  IAGPrs829375405850206Based on the EFO term IDGWAS_CATALOGPMID:27863252

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS613253_HHumanreticulocyte count  IAGPrs829375405850206 GWAS_CATALOGPMID:27863252

#
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


The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
1320507RAP1GAPRAP1 GTPase activating protein12159622121669357Human


Peak: (rs829375)
Human AssemblyChrPosition (strand)Source
GRCh38121,664,742 - 21,664,743RGD_MAPPER_PIPELINE


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
597090501GWAS1186575_Hmean reticulocyte volume QTL GWAS1186575 (human)2e-13reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)12166474221664743Human
406964277GWAS613253_Hreticulocyte count QTL GWAS613253 (human)1e-23reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)12166474221664743Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
406972956GWAS621932_Hreticulocyte count QTL GWAS621932 (human)3e-52reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)12166474221664743Human



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
GWAS613253_H GCST004612 High light scatter reticulocyte percentage of red cells 170,763 European ancestry individuals C 0.2331 1E-23 23 rs829375 0.04242726 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS621932_H GCST004628 Immature fraction of reticulocytes 170,548 European ancestry individuals C 0.2331 3E-52 51.523 rs829375 0.06395886 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS1186575_H GCST90002396 Mean reticulocyte volume 408,112 British individuals C 0.23158 2E-13 12.699 rs829375 0.019341897 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
Database
Acc Id
Source(s)
GWAS Catalog GCST004612 GWAS Catalog

Note Type Note Reference