rs398124485

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	3	Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G)	0	common in clinvar

Make rs398124485(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52076334

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124485
dbSNP (classic)	rs398124485
ClinGen	rs398124485
ebi	rs398124485
HLI	rs398124485
Exac	rs398124485
Gnomad	rs398124485
Varsome	rs398124485
LitVar	rs398124485
Map	rs398124485
PheGenI	rs398124485
Biobank	rs398124485
1000 genomes	rs398124485
hgdp	rs398124485
ensembl	rs398124485
geneview	rs398124485
scholar	rs398124485
google	rs398124485
pharmgkb	rs398124485
gwascentral	rs398124485
openSNP	rs398124485
23andMe	rs398124485
SNPshot	rs398124485
SNPdbe	rs398124485
MSV3d	rs398124485
GWAS Ctlg	rs398124485

Max Magnitude

3

ClinVar
Risk	rs398124485(C;C)
Alt	rs398124485(C;C)
Reference	Rs398124485(G;G)
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.51941132C>G
CLNSRC	ClinVar
CLNACC	RCV000082550.3, RCV000179552.1,