rs121913293
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.3 | Hereditary cancer predisposing syndrome |
| Make rs121913293(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 87952142 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913293 |
| dbSNP (classic) | rs121913293 |
| ClinGen | rs121913293 |
| ebi | rs121913293 |
| HLI | rs121913293 |
| Exac | rs121913293 |
| Gnomad | rs121913293 |
| Varsome | rs121913293 |
| LitVar | rs121913293 |
| Map | rs121913293 |
| PheGenI | rs121913293 |
| Biobank | rs121913293 |
| 1000 genomes | rs121913293 |
| hgdp | rs121913293 |
| ensembl | rs121913293 |
| geneview | rs121913293 |
| scholar | rs121913293 |
| rs121913293 | |
| pharmgkb | rs121913293 |
| gwascentral | rs121913293 |
| openSNP | rs121913293 |
| 23andMe | rs121913293 |
| SNPshot | rs121913293 |
| SNPdbe | rs121913293 |
| MSV3d | rs121913293 |
| GWAS Ctlg | rs121913293 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs121913293(A;A) rs121913293(T;T) |
| Alt | rs121913293(A;A) rs121913293(T;T) |
| Reference | Rs121913293(C;C) |
| Significance | Pathogenic |
| Disease | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of brain |
| Variation | info |
| Gene | PTEN |
| CLNDBN | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of brain |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89711899C>A; NC_000010.10:g.89711899C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000460834.1, RCV000169890.2, RCV000218276.1, RCV000445192.1, RCV000490574.1, |
