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rs137852950

From SNPedia

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


Make rs137852950(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position51659714
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852950
ebirs137852950
HLIrs137852950
Exacrs137852950
Varsomers137852950
Maprs137852950
PheGenIrs137852950
hapmaprs137852950
1000 genomesrs137852950
hgdprs137852950
ensemblrs137852950
gopubmedrs137852950
geneviewrs137852950
scholarrs137852950
googlers137852950
pharmgkbrs137852950
gwascentralrs137852950
openSNPrs137852950
23andMers137852950
23andMe allrs137852950
SNP Nexus

SNPshotrs137852950
SNPdbers137852950
MSV3drs137852950
GWAS Ctlgrs137852950
Max Magnitude0
OMIM606702
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852950(G;G)
Alt rs137852950(G;G)
Reference rs137852950(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.51524512A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004331.3,