rs398124475

Orientation

minus

Stabilized

minus

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

Make rs398124475(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51744510

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124475
dbSNP (classic)	rs398124475
ClinGen	rs398124475
ebi	rs398124475
HLI	rs398124475
Exac	rs398124475
Gnomad	rs398124475
Varsome	rs398124475
LitVar	rs398124475
Map	rs398124475
PheGenI	rs398124475
Biobank	rs398124475
1000 genomes	rs398124475
hgdp	rs398124475
ensembl	rs398124475
geneview	rs398124475
scholar	rs398124475
google	rs398124475
pharmgkb	rs398124475
gwascentral	rs398124475
openSNP	rs398124475
23andMe	rs398124475
SNPshot	rs398124475
SNPdbe	rs398124475
MSV3d	rs398124475
GWAS Ctlg	rs398124475

Max Magnitude

3

ClinVar
Risk	rs398124475(C;C) rs398124475(G;G)
Alt	rs398124475(C;C) rs398124475(G;G)
Reference	Rs398124475(T;T)
Significance	Other
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.51609308A>C
CLNSRC	HGMD
CLNACC	RCV000082514.3, RCV000179585.1,