rs146650273
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;ACTT) | 6.3 | PTEN hamartoma tumor syndrome |
| (ACTT;ACTT) | 0 | common/normal |
| (TACT;TACT) | 0 | common in clinvar |
| Make rs146650273(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 87961047 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146650273 |
| dbSNP (classic) | rs146650273 |
| ClinGen | rs146650273 |
| ebi | rs146650273 |
| HLI | rs146650273 |
| Exac | rs146650273 |
| Gnomad | rs146650273 |
| Varsome | rs146650273 |
| LitVar | rs146650273 |
| Map | rs146650273 |
| PheGenI | rs146650273 |
| Biobank | rs146650273 |
| 1000 genomes | rs146650273 |
| hgdp | rs146650273 |
| ensembl | rs146650273 |
| geneview | rs146650273 |
| scholar | rs146650273 |
| rs146650273 | |
| pharmgkb | rs146650273 |
| gwascentral | rs146650273 |
| openSNP | rs146650273 |
| 23andMe | rs146650273 |
| SNPshot | rs146650273 |
| SNPdbe | rs146650273 |
| MSV3d | rs146650273 |
| GWAS Ctlg | rs146650273 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs146650273(-;-) |
| Alt | rs146650273(-;-) |
| Reference | Rs146650273(TACT;TACT) |
| Significance | Pathogenic |
| Disease | Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | PTEN |
| CLNDBN | Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89720804_89720807delACTT |
| CLNSRC | ClinVar |
| CLNACC | RCV000144657.1, RCV000473522.1, RCV000491407.1, |
