rs746471701

Orientation

plus

Stabilized

plus

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

Make rs746471701(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

51632706

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs746471701
dbSNP (classic)	rs746471701
ClinGen	rs746471701
ebi	rs746471701
HLI	rs746471701
Exac	rs746471701
Gnomad	rs746471701
Varsome	rs746471701
LitVar	rs746471701
Map	rs746471701
PheGenI	rs746471701
Biobank	rs746471701
1000 genomes	rs746471701
hgdp	rs746471701
ensembl	rs746471701
geneview	rs746471701
scholar	rs746471701
google	rs746471701
pharmgkb	rs746471701
gwascentral	rs746471701
openSNP	rs746471701
23andMe	rs746471701
SNPshot	rs746471701
SNPdbe	rs746471701
MSV3d	rs746471701
GWAS Ctlg	rs746471701

Max Magnitude

3

ClinVar
Risk	rs746471701(A;A)
Alt	rs746471701(A;A)
Reference	Rs746471701(G;G)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51497504G>A
CLNSRC
CLNACC	RCV000169068.1,