rs1057516206

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	5	Polycystic Kidney Disease (predicted)
(T;T)	0	common in clinvar

Make rs1057516206(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2111624

Gene

PKD1

is a	snp
is	mentioned by
dbSNP	rs1057516206
dbSNP (classic)	rs1057516206
ClinGen	rs1057516206
ebi	rs1057516206
HLI	rs1057516206
Exac	rs1057516206
Gnomad	rs1057516206
Varsome	rs1057516206
LitVar	rs1057516206
Map	rs1057516206
PheGenI	rs1057516206
Biobank	rs1057516206
1000 genomes	rs1057516206
hgdp	rs1057516206
ensembl	rs1057516206
geneview	rs1057516206
scholar	rs1057516206
google	rs1057516206
pharmgkb	rs1057516206
gwascentral	rs1057516206
openSNP	rs1057516206
23andMe	rs1057516206
SNPshot	rs1057516206
SNPdbe	rs1057516206
MSV3d	rs1057516206
GWAS Ctlg	rs1057516206

Max Magnitude

5

c.3543T>A (p.Tyr1181Ter)

ClinVar
Risk	rs1057516206(A;A)
Alt	rs1057516206(A;A)
Reference	Rs1057516206(T;T)
Significance	Pathogenic
Disease	Polycystic kidney disease
Variation	info
Gene	PKD1
CLNDBN	Polycystic kidney disease, adult type
Reversed	1
HGVS	NC_000016.9:g.2161625A>T
CLNSRC
CLNACC	RCV000408798.1,