rs587781254
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.3 | PTEN hamartoma tumor syndrome |
| Make rs587781254(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 87933097 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587781254 |
| dbSNP (classic) | rs587781254 |
| ClinGen | rs587781254 |
| ebi | rs587781254 |
| HLI | rs587781254 |
| Exac | rs587781254 |
| Gnomad | rs587781254 |
| Varsome | rs587781254 |
| LitVar | rs587781254 |
| Map | rs587781254 |
| PheGenI | rs587781254 |
| Biobank | rs587781254 |
| 1000 genomes | rs587781254 |
| hgdp | rs587781254 |
| ensembl | rs587781254 |
| geneview | rs587781254 |
| scholar | rs587781254 |
| rs587781254 | |
| pharmgkb | rs587781254 |
| gwascentral | rs587781254 |
| openSNP | rs587781254 |
| 23andMe | rs587781254 |
| SNPshot | rs587781254 |
| SNPdbe | rs587781254 |
| MSV3d | rs587781254 |
| GWAS Ctlg | rs587781254 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs587781254(T;T) |
| Alt | rs587781254(T;T) |
| Reference | Rs587781254(G;G) |
| Significance | Pathogenic |
| Disease | PTEN hamartoma tumor syndrome |
| Variation | info |
| Gene | PTEN |
| CLNDBN | PTEN hamartoma tumor syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89692854G>T |
| CLNSRC | |
| CLNACC | RCV000128453.1, |
