rs200520583
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Polycystic Kidney Disease (predicted) |
| (G;G) | 0 | common/normal |
| Make rs200520583(A;A) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 16 |
| Position | 2102857 |
| Gene | PKD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200520583 |
| dbSNP (classic) | rs200520583 |
| ClinGen | rs200520583 |
| ebi | rs200520583 |
| HLI | rs200520583 |
| Exac | rs200520583 |
| Gnomad | rs200520583 |
| Varsome | rs200520583 |
| LitVar | rs200520583 |
| Map | rs200520583 |
| PheGenI | rs200520583 |
| Biobank | rs200520583 |
| 1000 genomes | rs200520583 |
| hgdp | rs200520583 |
| ensembl | rs200520583 |
| geneview | rs200520583 |
| scholar | rs200520583 |
| rs200520583 | |
| pharmgkb | rs200520583 |
| gwascentral | rs200520583 |
| openSNP | rs200520583 |
| 23andMe | rs200520583 |
| SNPshot | rs200520583 |
| SNPdbe | rs200520583 |
| MSV3d | rs200520583 |
| GWAS Ctlg | rs200520583 |
| Max Magnitude | 5 |
c.8905C>T (p.Gln2969Ter)
The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.
