rs121913289
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 6.3 | PTEN hamartoma tumor syndrome |
| (A;A) | 0 | common in clinvar |
| Make rs121913289(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 87958018 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913289 |
| dbSNP (classic) | rs121913289 |
| ClinGen | rs121913289 |
| ebi | rs121913289 |
| HLI | rs121913289 |
| Exac | rs121913289 |
| Gnomad | rs121913289 |
| Varsome | rs121913289 |
| LitVar | rs121913289 |
| Map | rs121913289 |
| PheGenI | rs121913289 |
| Biobank | rs121913289 |
| 1000 genomes | rs121913289 |
| hgdp | rs121913289 |
| ensembl | rs121913289 |
| geneview | rs121913289 |
| scholar | rs121913289 |
| rs121913289 | |
| pharmgkb | rs121913289 |
| gwascentral | rs121913289 |
| openSNP | rs121913289 |
| 23andMe | rs121913289 |
| SNPshot | rs121913289 |
| SNPdbe | rs121913289 |
| MSV3d | rs121913289 |
| GWAS Ctlg | rs121913289 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs121913289(-;-) |
| Alt | rs121913289(-;-) |
| Reference | Rs121913289(A;A) |
| Significance | Pathogenic |
| Disease | not provided PTEN hamartoma tumor syndrome Colorectal Neoplasms Neoplasm of breast Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | PTEN |
| CLNDBN | not provided PTEN hamartoma tumor syndrome Colorectal Neoplasms Neoplasm of breast Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89717775delA |
| CLNSRC | HGMD |
| CLNACC | RCV000078622.3, RCV000231858.1, RCV000419293.1, RCV000426937.1, RCV000491764.1, |
