rs199531851

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52046182

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs199531851
dbSNP (classic)	rs199531851
ClinGen	rs199531851
ebi	rs199531851
HLI	rs199531851
Exac	rs199531851
Gnomad	rs199531851
Varsome	rs199531851
LitVar	rs199531851
Map	rs199531851
PheGenI	rs199531851
Biobank	rs199531851
1000 genomes	rs199531851
hgdp	rs199531851
ensembl	rs199531851
geneview	rs199531851
scholar	rs199531851
google	rs199531851
pharmgkb	rs199531851
gwascentral	rs199531851
openSNP	rs199531851
23andMe	rs199531851
SNPshot	rs199531851
SNPdbe	rs199531851
MSV3d	rs199531851
GWAS Ctlg	rs199531851

Max Magnitude

6

rs199531851, also known as c.2414C>T, p.Pro805Leu or P805L, is a SNP in the PKHD1 gene on chromosome 6.

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

This SNP is referred to as i5000044 and i6016699 by 23andMe.

ClinVar
Risk	Rs199531851(A;A)
Alt	Rs199531851(A;A)
Reference	Rs199531851(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PKHD1
CLNDBN	not provided
Reversed	0
HGVS	NC_000006.11:g.51910980G>A
CLNSRC
CLNACC	RCV000432815.1,