rs199476099

Polycystic Kidney disease

Orientation

minus

Stabilized

minus

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

Make rs199476099(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2118021

Gene

PKD1

is a	snp
is	mentioned by
dbSNP	rs199476099
dbSNP (classic)	rs199476099
ClinGen	rs199476099
ebi	rs199476099
HLI	rs199476099
Exac	rs199476099
Gnomad	rs199476099
Varsome	rs199476099
LitVar	rs199476099
Map	rs199476099
PheGenI	rs199476099
Biobank	rs199476099
1000 genomes	rs199476099
hgdp	rs199476099
ensembl	rs199476099
geneview	rs199476099
scholar	rs199476099
google	rs199476099
pharmgkb	rs199476099
gwascentral	rs199476099
openSNP	rs199476099
23andMe	rs199476099
SNPshot	rs199476099
SNPdbe	rs199476099
MSV3d	rs199476099
GWAS Ctlg	rs199476099

Max Magnitude

5

Polycystic Kidney disease; see OMIM 601313.0011

c.971G>T (p.Arg324Leu)

ClinVar
Risk	rs199476099(A;A) rs199476099(T;T)
Alt	rs199476099(A;A) rs199476099(T;T)
Reference	Rs199476099(G;G)
Significance	Pathogenic
Disease	Polycystic kidney disease
Variation	info
Gene	PKD1
CLNDBN	Polycystic kidney disease, adult type
Reversed	1
HGVS	NC_000016.9:g.2168022C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008688.3,