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rs148812376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Autosomal dominant polycystic kidney disease (predicted)
(A;G) 5 Polycystic Kidney Disease (predicted)
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2099955
GenePKD1
is asnp
is mentioned by
dbSNPrs148812376
dbSNP (classic)rs148812376
ClinGenrs148812376
ebirs148812376
HLIrs148812376
Exacrs148812376
Gnomadrs148812376
Varsomers148812376
LitVarrs148812376
Maprs148812376
PheGenIrs148812376
Biobankrs148812376
1000 genomesrs148812376
hgdprs148812376
ensemblrs148812376
geneviewrs148812376
scholarrs148812376
googlers148812376
pharmgkbrs148812376
gwascentralrs148812376
openSNPrs148812376
23andMers148812376
SNPshotrs148812376
SNPdbers148812376
MSV3drs148812376
GWAS Ctlgrs148812376
Max Magnitude5

aka c.9829C>T, p.Arg3277Cys and R3277C

Considered a hypomorphic mutation in terms of end-stage renal disease (ESRD) and autosomal dominant polycystic kidney disease; when homozygous, associated with adult onset ADPKD and when heterozygous more likely to result in the development of just a few cysts.[PMID 19165178OA-icon.png]

ClinVar
Risk Rs148812376(A;A)
Alt Rs148812376(A;A)
Reference Rs148812376(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.2149956G>A
CLNSRC
CLNACC RCV000192215.1,