rs398124477

Orientation

minus

Stabilized

minus

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

Make rs398124477(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52055730

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124477
dbSNP (classic)	rs398124477
ClinGen	rs398124477
ebi	rs398124477
HLI	rs398124477
Exac	rs398124477
Gnomad	rs398124477
Varsome	rs398124477
LitVar	rs398124477
Map	rs398124477
PheGenI	rs398124477
Biobank	rs398124477
1000 genomes	rs398124477
hgdp	rs398124477
ensembl	rs398124477
geneview	rs398124477
scholar	rs398124477
google	rs398124477
pharmgkb	rs398124477
gwascentral	rs398124477
openSNP	rs398124477
23andMe	rs398124477
SNPshot	rs398124477
SNPdbe	rs398124477
MSV3d	rs398124477
GWAS Ctlg	rs398124477

Max Magnitude

3

ClinVar
Risk	rs398124477(A;A)
Alt	rs398124477(A;A)
Reference	Rs398124477(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.51920528C>T
CLNSRC	ClinVar
CLNACC	RCV000082530.3, RCV000175488.1,