GWAS1470123_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1470123_H (nephrolithiasis QTL GWAS1470123 (human)) Homo sapiens

Symbol: GWAS1470123_H
Name: nephrolithiasis QTL GWAS1470123 (human)
RGD ID: 597374049
Trait: nephrolithiasis
LOD Score: Not Available
P Value: 4.0E-12
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh382136,461,009 - 36,461,010RGD_MAPPER_PIPELINEGRCh38
GRCh372137,833,307 - 37,833,308RGD_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
38637361CLDN14-AS1CLDN14 antisense RNA 1213643032536498526Human
1319353CLDN14claudin 14213646062136576569Human

Position Markers

Peak: (rs219780)
Human AssemblyChrPosition (strand)Source
GRCh382136,461,009 - 36,461,010RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
597374049GWAS1470123_Hnephrolithiasis QTL GWAS1470123 (human)4e-12nephrolithiasis213646100936461010Human


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
GWAS1470123_H GCST000429 Kidney stones 1,507 European ancestry cases, 34,033 European ancestry controls C 0.79 4E-12 11.398 rs219780 1.25 nephrolithiasis (EFO:0004253)
 PMID:19561606
Database Acc Id Source(s)
GWAS Catalog GCST000429 GWAS Catalog

RGD Curation Notes
Note Type Note Reference