rs200001068

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Polycystic kidney disease, autosomal dominant form (predicted)

Make rs200001068(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

88038323

Gene

PKD2

is a	snp
is	mentioned by
dbSNP	rs200001068
dbSNP (classic)	rs200001068
ClinGen	rs200001068
ebi	rs200001068
HLI	rs200001068
Exac	rs200001068
Gnomad	rs200001068
Varsome	rs200001068
LitVar	rs200001068
Map	rs200001068
PheGenI	rs200001068
Biobank	rs200001068
1000 genomes	rs200001068
hgdp	rs200001068
ensembl	rs200001068
geneview	rs200001068
scholar	rs200001068
google	rs200001068
pharmgkb	rs200001068
gwascentral	rs200001068
openSNP	rs200001068
23andMe	rs200001068
SNPshot	rs200001068
SNPdbe	rs200001068
MSV3d	rs200001068
GWAS Ctlg	rs200001068

Max Magnitude

5

aka c.916C>T (p.Arg306Ter)

23andMe name: i5047394

ClinVar
Risk	rs200001068(A;A) rs200001068(T;T)
Alt	rs200001068(A;A) rs200001068(T;T)
Reference	Rs200001068(C;C)
Significance	Pathogenic
Disease	Polycystic kidney disease 2
Variation	info
Gene	PKD2
CLNDBN	Polycystic kidney disease 2
Reversed	0
HGVS	NC_000004.11:g.88959475C>T
CLNSRC
CLNACC	RCV000449565.1,