rs749004212
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
| Make rs749004212(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 4 |
| Position | 88038365 |
| Gene | PKD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749004212 |
| dbSNP (classic) | rs749004212 |
| ClinGen | rs749004212 |
| ebi | rs749004212 |
| HLI | rs749004212 |
| Exac | rs749004212 |
| Gnomad | rs749004212 |
| Varsome | rs749004212 |
| LitVar | rs749004212 |
| Map | rs749004212 |
| PheGenI | rs749004212 |
| Biobank | rs749004212 |
| 1000 genomes | rs749004212 |
| hgdp | rs749004212 |
| ensembl | rs749004212 |
| geneview | rs749004212 |
| scholar | rs749004212 |
| rs749004212 | |
| pharmgkb | rs749004212 |
| gwascentral | rs749004212 |
| openSNP | rs749004212 |
| 23andMe | rs749004212 |
| SNPshot | rs749004212 |
| SNPdbe | rs749004212 |
| MSV3d | rs749004212 |
| GWAS Ctlg | rs749004212 |
| Max Magnitude | 5 |
aka c.958C>T (p.Arg320Ter); liked in PKD mutation database as definitely pathogenic
23andMe name: i5047385
