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rs137852944

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
Position52083201
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852944
ebirs137852944
HLIrs137852944
Exacrs137852944
Varsomers137852944
Maprs137852944
PheGenIrs137852944
hapmaprs137852944
1000 genomesrs137852944
hgdprs137852944
ensemblrs137852944
gopubmedrs137852944
geneviewrs137852944
scholarrs137852944
googlers137852944
pharmgkbrs137852944
gwascentralrs137852944
openSNPrs137852944
23andMers137852944
23andMe allrs137852944
SNP Nexus

SNPshotrs137852944
SNPdbers137852944
MSV3drs137852944
GWAS Ctlgrs137852944
Merged fromRs28939383
GMAF0.0004591
Max Magnitude6

rs137852944, also known as T36M or Thr36Met, is a SNP in the PKHD1 gene. It is the most common mutation leading to polycystic kidney disease in those of European ancestry.

This SNP is referred to as i5012611 by 23andMe, as well as by an older name, rs28939383.

OMIM606702
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852944(T;T)
Alt rs137852944(T;T)
Reference rs137852944(C;C)
Significance Other
Disease Polycystic kidney disease Colorectal cancer not provided
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type Colorectal cancer, protection against not provided
Reversed 1
HGVS NC_000006.11:g.51947999G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004324.2, RCV000023566.2, RCV000082517.4,