rs398124479

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 rs398124479(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52048491

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124479
dbSNP (classic)	rs398124479
ClinGen	rs398124479
ebi	rs398124479
HLI	rs398124479
Exac	rs398124479
Gnomad	rs398124479
Varsome	rs398124479
LitVar	rs398124479
Map	rs398124479
PheGenI	rs398124479
Biobank	rs398124479
1000 genomes	rs398124479
hgdp	rs398124479
ensembl	rs398124479
geneview	rs398124479
scholar	rs398124479
google	rs398124479
pharmgkb	rs398124479
gwascentral	rs398124479
openSNP	rs398124479
23andMe	rs398124479
SNPshot	rs398124479
SNPdbe	rs398124479
MSV3d	rs398124479
GWAS Ctlg	rs398124479

Max Magnitude

3

ClinVar
Risk	rs398124479(A;A)
Alt	rs398124479(A;A)
Reference	Rs398124479(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.51913289C>T
CLNSRC	ClinVar
CLNACC	RCV000082539.3, RCV000176434.1,