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rs137852949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of an autosomal recessive polycystic kidney disease mutation
(T;T) 6 Polycystic Kidney disease
ReferenceGRCh38 38.1/141
Chromosome6
Position52058349
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852949
dbSNP (old)rs137852949
ClinGenrs137852949
ebirs137852949
HLIrs137852949
Exacrs137852949
Gnomadrs137852949
Varsomers137852949
Maprs137852949
PheGenIrs137852949
Biobankrs137852949
1000 genomesrs137852949
hgdprs137852949
ensemblrs137852949
gopubmedrs137852949
geneviewrs137852949
scholarrs137852949
googlers137852949
pharmgkbrs137852949
gwascentralrs137852949
openSNPrs137852949
23andMers137852949
23andMe allrs137852949
SNP Nexus

SNPshotrs137852949
SNPdbers137852949
MSV3drs137852949
GWAS Ctlgrs137852949
Max Magnitude6

rs137852949, also known as c.1486C>T or p.Arg496Ter, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs199531851(T), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i5012612 by 23andMe.

OMIM606702
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852949(G;G) Rs137852949(T;T)
Alt rs137852949(G;G) Rs137852949(T;T)
Reference Rs137852949(C;C)
Significance Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51923147G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004330.3,