rs369825780

Orientation

plus

Stabilized

plus

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

Make rs369825780(A;A)

Make rs369825780(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2092181

Gene	LOC105371049, MIR1225, PKD1

is a	snp
is	mentioned by
dbSNP	rs369825780
dbSNP (classic)	rs369825780
ClinGen	rs369825780
ebi	rs369825780
HLI	rs369825780
Exac	rs369825780
Gnomad	rs369825780
Varsome	rs369825780
LitVar	rs369825780
Map	rs369825780
PheGenI	rs369825780
Biobank	rs369825780
1000 genomes	rs369825780
hgdp	rs369825780
ensembl	rs369825780
geneview	rs369825780
scholar	rs369825780
google	rs369825780
pharmgkb	rs369825780
gwascentral	rs369825780
openSNP	rs369825780
23andMe	rs369825780
SNPshot	rs369825780
SNPdbe	rs369825780
MSV3d	rs369825780
GWAS Ctlg	rs369825780

Max Magnitude

5

c.11277C>G (p.Tyr3759Ter)

Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease

ClinVar
Risk	rs369825780(A;A) rs369825780(C;C)
Alt	rs369825780(A;A) rs369825780(C;C)
Reference	Rs369825780(G;G)
Significance	Pathogenic
Disease	Polycystic kidney disease
Variation	info
Gene	PKD1 MIR1225 LOC105371049
CLNDBN	Polycystic kidney disease, adult type
Reversed	0
HGVS	NC_000016.9:g.2142182G>C
CLNSRC
CLNACC	RCV000449600.1,