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rs539793378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Polycystic Kidney Disease (predicted)
Make rs539793378(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2108868
GenePKD1
is asnp
is mentioned by
dbSNPrs539793378
dbSNP (classic)rs539793378
ClinGenrs539793378
ebirs539793378
HLIrs539793378
Exacrs539793378
Gnomadrs539793378
Varsomers539793378
LitVarrs539793378
Maprs539793378
PheGenIrs539793378
Biobankrs539793378
1000 genomesrs539793378
hgdprs539793378
ensemblrs539793378
geneviewrs539793378
scholarrs539793378
googlers539793378
pharmgkbrs539793378
gwascentralrs539793378
openSNPrs539793378
23andMers539793378
23andMe allrs539793378
SNPshotrs539793378
SNPdbers539793378
MSV3drs539793378
GWAS Ctlgrs539793378
Max Magnitude5

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,