rs398124502

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	6	Polycystic Kidney disease
(-;A)	3	carrier of an autosomal recessive polycystic kidney disease mutation
(A;A)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

51747927

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124502
dbSNP (classic)	rs398124502
ClinGen	rs398124502
ebi	rs398124502
HLI	rs398124502
Exac	rs398124502
Gnomad	rs398124502
Varsome	rs398124502
LitVar	rs398124502
Map	rs398124502
PheGenI	rs398124502
Biobank	rs398124502
1000 genomes	rs398124502
hgdp	rs398124502
ensembl	rs398124502
geneview	rs398124502
scholar	rs398124502
google	rs398124502
pharmgkb	rs398124502
gwascentral	rs398124502
openSNP	rs398124502
23andMe	rs398124502
SNPshot	rs398124502
SNPdbe	rs398124502
MSV3d	rs398124502
GWAS Ctlg	rs398124502

Max Magnitude

6

rs398124502, also known as c. 9689del A. or p.Asp3230fs, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs398124502(-), is considered causative for autosomal recessive polycystic kidney disease.

This SNP is most likely referred to as i5012610 by 23andMe.

ClinVar
Risk	Rs398124502(-;-)
Alt	Rs398124502(-;-)
Reference	Rs398124502(A;A)
Significance	Pathogenic
Disease	not provided Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	not provided Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51612725delT
CLNSRC	HGMD
CLNACC	RCV000082594.3, RCV000179217.2,