GWAS911073_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS911073_H (platelet count QTL GWAS911073 (human)) Homo sapiens

Symbol: GWAS911073_H
Name: platelet count QTL GWAS911073 (human)
RGD ID: 407262097
Trait: platelet quantity   (VT:0003179)    
Measurement Type: platelet count   (CMO:0000029)    
LOD Score: Not Available
P Value: 5.0E-11
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38123,079,301 - 23,079,302RGD_MAPPER_PIPELINEGRCh38
GRCh37123,405,794 - 23,405,795RGD_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)
GWAS911073_HHumanplatelet count  IAGPrs2072945405850206Based on the EFO term IDGWAS_CATALOGPMID:32888493

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS911073_HHumanplatelet quantity  IAGPrs2072945405850206Based on the EFO term IDGWAS_CATALOGPMID:32888493

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS911073_HHumanplatelet count  IAGPrs2072945405850206 GWAS_CATALOGPMID:32888493
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement
platelet count  (IAGP)

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
1346422KDM1Alysine demethylase 1A12301946823083689Human

Position Markers

Peak: (rs2072945)
Human AssemblyChrPosition (strand)Source
GRCh38123,079,301 - 23,079,302RGD_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
407343058GWAS992034_Hdiastolic blood pressure QTL GWAS992034 (human)5e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)12307930123079302Human
407262097GWAS911073_Hplatelet count QTL GWAS911073 (human)5e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)12307930123079302Human
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


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
GWAS911073_H GCST90002357 Platelet count 542,827 European ancestry individuals C 0.854796 5E-11 10.302 rs2072945 0.016983 platelet count (EFO:0004309)
 PMID:32888493
GWAS992034_H GCST90018952 Diastolic blood pressure 340,162 European ancestry individuals, 145,515 East Asian ancestry individuals C NR 5E-8 7.302 rs2072945 0.0147 diastolic blood pressure (EFO:0006336)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90002357 GWAS Catalog

RGD Curation Notes
Note Type Note Reference