rs398124476

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 rs398124476(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52056889

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124476
dbSNP (classic)	rs398124476
ClinGen	rs398124476
ebi	rs398124476
HLI	rs398124476
Exac	rs398124476
Gnomad	rs398124476
Varsome	rs398124476
LitVar	rs398124476
Map	rs398124476
PheGenI	rs398124476
Biobank	rs398124476
1000 genomes	rs398124476
hgdp	rs398124476
ensembl	rs398124476
geneview	rs398124476
scholar	rs398124476
google	rs398124476
pharmgkb	rs398124476
gwascentral	rs398124476
openSNP	rs398124476
23andMe	rs398124476
SNPshot	rs398124476
SNPdbe	rs398124476
MSV3d	rs398124476
GWAS Ctlg	rs398124476

Max Magnitude

3

ClinVar
Risk	rs398124476(A;A)
Alt	rs398124476(A;A)
Reference	Rs398124476(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.51921687C>T
CLNSRC	ClinVar
CLNACC	RCV000082529.3, RCV000175244.1,