rs398124484

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CC;CC)	0	common in clinvar
(CC;G)	3	carrier of a polycystic kidney disease allele
(G;G)	6	Polycystic kidney disease

Reference

GRCh38 38.1/141

Chromosome

6

Position

52026048

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124484
dbSNP (classic)	rs398124484
ClinGen	rs398124484
ebi	rs398124484
HLI	rs398124484
Exac	rs398124484
Gnomad	rs398124484
Varsome	rs398124484
LitVar	rs398124484
Map	rs398124484
PheGenI	rs398124484
Biobank	rs398124484
1000 genomes	rs398124484
hgdp	rs398124484
ensembl	rs398124484
geneview	rs398124484
scholar	rs398124484
google	rs398124484
pharmgkb	rs398124484
gwascentral	rs398124484
openSNP	rs398124484
23andMe	rs398124484
SNPshot	rs398124484
SNPdbe	rs398124484
MSV3d	rs398124484
GWAS Ctlg	rs398124484

Max Magnitude

6

rs398124484, also known as c.3761_3762del insG or p.Ala1254fs, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs398124484(G), is considered causative for autosomal recessive Polycystic kidney disease.

ClinVar
Risk	Rs398124484(G;G)
Alt	Rs398124484(G;G)
Reference	Rs398124484(CC;CC)
Significance	Other
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.51890846_51890847delGGinsC
CLNSRC	HGMD
CLNACC	RCV000082548.3, RCV000169008.3,