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rs137852947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852947(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position51847871
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852947
ebirs137852947
HLIrs137852947
Exacrs137852947
Varsomers137852947
Maprs137852947
PheGenIrs137852947
hapmaprs137852947
1000 genomesrs137852947
hgdprs137852947
ensemblrs137852947
gopubmedrs137852947
geneviewrs137852947
scholarrs137852947
googlers137852947
pharmgkbrs137852947
gwascentralrs137852947
openSNPrs137852947
23andMers137852947
23andMe allrs137852947
SNP Nexus

SNPshotrs137852947
SNPdbers137852947
MSV3drs137852947
GWAS Ctlgrs137852947
Max Magnitude0
OMIM606702
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852947(T;T)
Alt rs137852947(T;T)
Reference rs137852947(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51712669G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004328.2,