rs539793378

Orientation

plus

Stabilized

plus

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

Make rs539793378(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2108868

Gene

PKD1

is a	snp
is	mentioned by
dbSNP	rs539793378
dbSNP (classic)	rs539793378
ClinGen	rs539793378
ebi	rs539793378
HLI	rs539793378
Exac	rs539793378
Gnomad	rs539793378
Varsome	rs539793378
LitVar	rs539793378
Map	rs539793378
PheGenI	rs539793378
Biobank	rs539793378
1000 genomes	rs539793378
hgdp	rs539793378
ensembl	rs539793378
geneview	rs539793378
scholar	rs539793378
google	rs539793378
pharmgkb	rs539793378
gwascentral	rs539793378
openSNP	rs539793378
23andMe	rs539793378
SNPshot	rs539793378
SNPdbe	rs539793378
MSV3d	rs539793378
GWAS Ctlg	rs539793378

Max Magnitude

5

c.6299C>A (p.Ser2100Ter)

Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease

ClinVar
Risk	rs539793378(A;A) rs539793378(T;T)
Alt	rs539793378(A;A) rs539793378(T;T)
Reference	Rs539793378(G;G)
Significance	Pathogenic
Disease	Polycystic kidney disease
Variation	info
Gene	PKD1
CLNDBN	Polycystic kidney disease, adult type
Reversed	0
HGVS	NC_000016.9:g.2158869G>T
CLNSRC
CLNACC	RCV000449590.1,