rs137852944

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

52083201

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852944
dbSNP (classic)	rs137852944
ClinGen	rs137852944
ebi	rs137852944
HLI	rs137852944
Exac	rs137852944
Gnomad	rs137852944
Varsome	rs137852944
LitVar	rs137852944
Map	rs137852944
PheGenI	rs137852944
Biobank	rs137852944
1000 genomes	rs137852944
hgdp	rs137852944
ensembl	rs137852944
geneview	rs137852944
scholar	rs137852944
google	rs137852944
pharmgkb	rs137852944
gwascentral	rs137852944
openSNP	rs137852944
23andMe	rs137852944
SNPshot	rs137852944
SNPdbe	rs137852944
MSV3d	rs137852944
GWAS Ctlg	rs137852944

Merged from

Rs28939383

GMAF

0.0004591

Max Magnitude

6

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.

OMIM	606702
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs137852944(T;T)
Alt	Rs137852944(T;T)
Reference	Rs137852944(C;C)
Significance	Other
Disease	Autosomal recessive polycystic kidney disease Colorectal cancer not provided Oligohydramnios Periportal fibrosis Polycystic kidney dysplasia
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease Colorectal cancer, protection against not provided Oligohydramnios Periportal fibrosis Polycystic kidney dysplasia
Reversed	1
HGVS	NC_000006.11:g.51947999G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004324.2, RCV000023566.2, RCV000082517.4, RCV000414898.1,