rs369925690

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	6	Polycystic Kidney disease
(C;T)	3	carrier of an autosomal recessive polycystic kidney disease mutation
(T;T)	0	common/normal

Reference

GRCh38 38.1/142

Chromosome

6

Position

52071009

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs369925690
dbSNP (classic)	rs369925690
ClinGen	rs369925690
ebi	rs369925690
HLI	rs369925690
Exac	rs369925690
Gnomad	rs369925690
Varsome	rs369925690
LitVar	rs369925690
Map	rs369925690
PheGenI	rs369925690
Biobank	rs369925690
1000 genomes	rs369925690
hgdp	rs369925690
ensembl	rs369925690
geneview	rs369925690
scholar	rs369925690
google	rs369925690
pharmgkb	rs369925690
gwascentral	rs369925690
openSNP	rs369925690
23andMe	rs369925690
SNPshot	rs369925690
SNPdbe	rs369925690
MSV3d	rs369925690
GWAS Ctlg	rs369925690

Max Magnitude

6

rs369925690, also known as c.664A>G, I222V or p.Ile222Val, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs369925690(C), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i5000047 by 23andMe.

ClinVar
Risk	Rs369925690(C;C) rs369925690(G;G)
Alt	Rs369925690(C;C) rs369925690(G;G)
Reference	Rs369925690(T;T)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51935807T>C
CLNSRC
CLNACC	RCV000467466.1,