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rs137852948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar


Make rs137852948(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position51659468
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852948
ebirs137852948
HLIrs137852948
Exacrs137852948
Varsomers137852948
Maprs137852948
PheGenIrs137852948
hapmaprs137852948
1000 genomesrs137852948
hgdprs137852948
ensemblrs137852948
gopubmedrs137852948
geneviewrs137852948
scholarrs137852948
googlers137852948
pharmgkbrs137852948
gwascentralrs137852948
openSNPrs137852948
23andMers137852948
23andMe allrs137852948
SNP Nexus

SNPshotrs137852948
SNPdbers137852948
MSV3drs137852948
GWAS Ctlgrs137852948
Max Magnitude0
OMIM606702
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852948(C;C)
Alt rs137852948(C;C)
Reference rs137852948(T;T)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51524266A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004329.3,