GWAS1009444_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1009444_H (nephrolithiasis QTL GWAS1009444 (human)) Homo sapiens

Symbol: GWAS1009444_H
Name: nephrolithiasis QTL GWAS1009444 (human)
RGD ID: 407360468
Trait: nephrolithiasis
LOD Score: Not Available
P Value: 4.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381553,704,892 - 53,704,893RGD_MAPPER_PIPELINEGRCh38
GRCh371553,997,089 - 53,997,090RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
1602418WDR72WD repeat domain 72155351374153762878Human

Position Markers

Peak: (rs578595)
Human AssemblyChrPosition (strand)Source
GRCh381553,704,892 - 53,704,893RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407360468GWAS1009444_Hnephrolithiasis QTL GWAS1009444 (human)4e-09nephrolithiasis155370489253704893Human
406925285GWAS574261_Hnephrolithiasis QTL GWAS574261 (human)6e-11nephrolithiasis155370489253704893Human
407360483GWAS1009459_Hnephrolithiasis QTL GWAS1009459 (human)2e-08nephrolithiasis155370489253704893Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
406923444GWAS572420_Hnephrolithiasis QTL GWAS572420 (human)0.000003nephrolithiasis155370489253704893Human
407279424GWAS928400_Hurolithiasis QTL GWAS928400 (human)2e-12urolithiasis155370489253704893Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human


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
GWAS572420_H GCST009599 Kidney stones 6,536 British ancestry cases, 388,508 British ancestry controls C 0.46 0.000003 5.523 rs578595 1.09 nephrolithiasis (EFO:0004253)
 PMID:31729369
GWAS574261_H GCST009598 Kidney stones 6,536 British ancestry cases, 5,587 Japanese ancestry cases, 388,508 British ancestry controls, 28,870 Japanese ancestry controls C 0.46 6E-11 10.222 rs578595 1.09 nephrolithiasis (EFO:0004253)
 PMID:31729369
GWAS928400_H GCST90018935 Urolithiasis 6,223 European ancestry cases, 482,123 European ancestry controls, 11,699 East Asian ancestry cases, 167,027 East Asian ancestry controls A NR 2E-12 11.699 rs578595 0.0843 PMID:34594039
GWAS1009444_H GCST90428894 Kidney stone disease 8,504 European ancestry cases, 388,819 European ancestry controls C 0.48 4E-9 8.398 rs578595 1.1 nephrolithiasis (EFO:0004253)
 PMID:37787550
GWAS1009459_H GCST90428895 Kidney stone disease 5,633 European ancestry male cases, 176,738 European ancestry male controls C 0.49 2E-8 7.699 rs578595 1.11 nephrolithiasis (EFO:0004253)
 PMID:37787550
Database Acc Id Source(s)
GWAS Catalog GCST90428894 GWAS Catalog

RGD Curation Notes
Note Type Note Reference