GWAS819533_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS819533_H (alkaline phosphatase measurement QTL GWAS819533 (human)) Homo sapiens

Symbol: GWAS819533_H
Name: alkaline phosphatase measurement QTL GWAS819533 (human)
RGD ID: 407170557
Trait: alkaline phosphatase measurement
Measurement Type: blood alkaline phosphatase activity level   (CMO:0000576)    
LOD Score: Not Available
P Value: 1.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38121,066,191 - 21,066,192RGD_MAPPER_PIPELINEGRCh38
GRCh37121,392,684 - 21,392,685RGD_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)
GWAS819533_HHumanblood alkaline phosphatase activity level  IAGPrs113645786405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS819533_HHumanalkaline phosphatase measurement  IAGPrs113645786405850206 GWAS_CATALOGPMID:33462484
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
1322792EIF4G3eukaryotic translation initiation factor 4 gamma 312080629221176897Human

Position Markers

Peak: (rs113645786)
Human AssemblyChrPosition (strand)Source
GRCh38121,066,191 - 21,066,192RGD_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
407314143GWAS963119_Hblood phosphate measurement QTL GWAS963119 (human)2e-20blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)12106619121066192Human
407170557GWAS819533_Halkaline phosphatase measurement QTL GWAS819533 (human)1e-09alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)12106619121066192Human
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
GWAS819533_H GCST90019494 Serum alkaline phosphatase levels 342,535 European ancestry individuals, 6,019 African ancestry individuals, 7,337 South Asian ancestry individuals T NR 1E-9 9 rs113645786 0.0343 alkaline phosphatase measurement (EFO:0004533)
 PMID:33462484
GWAS963119_H GCST90019516 Serum phosphate levels 312,888 European ancestry individuals, 5,568 African ancestry individuals, 6,685 South Asian ancestry individuals T NR 2E-20 19.699 rs113645786 0.0545 blood phosphate measurement (EFO:0010972)
 PMID:33462484
Database Acc Id Source(s)
GWAS Catalog GCST90019494 GWAS Catalog

RGD Curation Notes
Note Type Note Reference