rs398124498

Orientation

minus

Stabilized

minus

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

Make rs398124498(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52083223

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124498
dbSNP (classic)	rs398124498
ClinGen	rs398124498
ebi	rs398124498
HLI	rs398124498
Exac	rs398124498
Gnomad	rs398124498
Varsome	rs398124498
LitVar	rs398124498
Map	rs398124498
PheGenI	rs398124498
Biobank	rs398124498
1000 genomes	rs398124498
hgdp	rs398124498
ensembl	rs398124498
geneview	rs398124498
scholar	rs398124498
google	rs398124498
pharmgkb	rs398124498
gwascentral	rs398124498
openSNP	rs398124498
23andMe	rs398124498
SNPshot	rs398124498
SNPdbe	rs398124498
MSV3d	rs398124498
GWAS Ctlg	rs398124498

Max Magnitude

3

ClinVar
Risk	rs398124498(T;T)
Alt	rs398124498(T;T)
Reference	Rs398124498(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.51948021C>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000082585.3, RCV000177400.1,