rs371387815
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.3 | Hereditary cancer predisposing syndrome |
| Make rs371387815(C;G) |
| Make rs371387815(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 87960984 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371387815 |
| dbSNP (classic) | rs371387815 |
| ClinGen | rs371387815 |
| ebi | rs371387815 |
| HLI | rs371387815 |
| Exac | rs371387815 |
| Gnomad | rs371387815 |
| Varsome | rs371387815 |
| LitVar | rs371387815 |
| Map | rs371387815 |
| PheGenI | rs371387815 |
| Biobank | rs371387815 |
| 1000 genomes | rs371387815 |
| hgdp | rs371387815 |
| ensembl | rs371387815 |
| geneview | rs371387815 |
| scholar | rs371387815 |
| rs371387815 | |
| pharmgkb | rs371387815 |
| gwascentral | rs371387815 |
| openSNP | rs371387815 |
| 23andMe | rs371387815 |
| SNPshot | rs371387815 |
| SNPdbe | rs371387815 |
| MSV3d | rs371387815 |
| GWAS Ctlg | rs371387815 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs371387815(G;G) rs371387815(T;T) |
| Alt | rs371387815(G;G) rs371387815(T;T) |
| Reference | Rs371387815(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome not specified not provided |
| Variation | info |
| Gene | PTEN |
| CLNDBN | Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome not specified not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89720741C>G; NC_000010.10:g.89720741C>T |
| CLNSRC | |
| CLNACC | RCV000115590.5, RCV000148765.1, RCV000199677.2, RCV000212885.2, RCV000167405.1, RCV000315739.1, |
