rs137852949

Orientation

minus

Stabilized

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

52058349

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852949
dbSNP (classic)	rs137852949
ClinGen	rs137852949
ebi	rs137852949
HLI	rs137852949
Exac	rs137852949
Gnomad	rs137852949
Varsome	rs137852949
LitVar	rs137852949
Map	rs137852949
PheGenI	rs137852949
Biobank	rs137852949
1000 genomes	rs137852949
hgdp	rs137852949
ensembl	rs137852949
geneview	rs137852949
scholar	rs137852949
google	rs137852949
pharmgkb	rs137852949
gwascentral	rs137852949
openSNP	rs137852949
23andMe	rs137852949
SNPshot	rs137852949
SNPdbe	rs137852949
MSV3d	rs137852949
GWAS Ctlg	rs137852949

Max Magnitude

6

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.

OMIM	606702
Desc
Variant	0007
Related	also

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,