rs148812376
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 2099955 |
| Gene | PKD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148812376 |
| dbSNP (classic) | rs148812376 |
| ClinGen | rs148812376 |
| ebi | rs148812376 |
| HLI | rs148812376 |
| Exac | rs148812376 |
| Gnomad | rs148812376 |
| Varsome | rs148812376 |
| LitVar | rs148812376 |
| Map | rs148812376 |
| PheGenI | rs148812376 |
| Biobank | rs148812376 |
| 1000 genomes | rs148812376 |
| hgdp | rs148812376 |
| ensembl | rs148812376 |
| geneview | rs148812376 |
| scholar | rs148812376 |
| rs148812376 | |
| pharmgkb | rs148812376 |
| gwascentral | rs148812376 |
| openSNP | rs148812376 |
| 23andMe | rs148812376 |
| SNPshot | rs148812376 |
| SNPdbe | rs148812376 |
| MSV3d | rs148812376 |
| GWAS Ctlg | rs148812376 |
| Max Magnitude | 5 |
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 19165178
]
| 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, |
