rs121909232
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
| (C;C) | 0 | common in complete genomics |
| (C;G) | 6.3 | Hereditary cancer predisposing syndrome |
| Make rs121909232(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 87952258 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909232 |
| dbSNP (classic) | rs121909232 |
| ClinGen | rs121909232 |
| ebi | rs121909232 |
| HLI | rs121909232 |
| Exac | rs121909232 |
| Gnomad | rs121909232 |
| Varsome | rs121909232 |
| LitVar | rs121909232 |
| Map | rs121909232 |
| PheGenI | rs121909232 |
| Biobank | rs121909232 |
| 1000 genomes | rs121909232 |
| hgdp | rs121909232 |
| ensembl | rs121909232 |
| geneview | rs121909232 |
| scholar | rs121909232 |
| rs121909232 | |
| pharmgkb | rs121909232 |
| gwascentral | rs121909232 |
| openSNP | rs121909232 |
| 23andMe | rs121909232 |
| SNPshot | rs121909232 |
| SNPdbe | rs121909232 |
| MSV3d | rs121909232 |
| GWAS Ctlg | rs121909232 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs121909232(A;A) rs121909232(G;G) |
| Alt | rs121909232(A;A) rs121909232(G;G) |
| Reference | Rs121909232(C;C) |
| Significance | Pathogenic |
| Disease | Malignant melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | PTEN |
| CLNDBN | Malignant melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89712015C>A; NC_000010.10:g.89712015C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008284.4, RCV000409569.1, RCV000490942.1, RCV000399957.1, |
