rs202004587
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs202004587(A;A) |
| Make rs202004587(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 87931071 |
| Gene | PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202004587 |
| dbSNP (classic) | rs202004587 |
| ClinGen | rs202004587 |
| ebi | rs202004587 |
| HLI | rs202004587 |
| Exac | rs202004587 |
| Gnomad | rs202004587 |
| Varsome | rs202004587 |
| LitVar | rs202004587 |
| Map | rs202004587 |
| PheGenI | rs202004587 |
| Biobank | rs202004587 |
| 1000 genomes | rs202004587 |
| hgdp | rs202004587 |
| ensembl | rs202004587 |
| geneview | rs202004587 |
| scholar | rs202004587 |
| rs202004587 | |
| pharmgkb | rs202004587 |
| gwascentral | rs202004587 |
| openSNP | rs202004587 |
| 23andMe | rs202004587 |
| SNPshot | rs202004587 |
| SNPdbe | rs202004587 |
| MSV3d | rs202004587 |
| GWAS Ctlg | rs202004587 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202004587(A;A) rs202004587(T;T) |
| Alt | rs202004587(A;A) rs202004587(T;T) |
| Reference | Rs202004587(G;G) |
| Significance | Pathogenic |
| Disease | not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Cowden syndrome 1 |
| Variation | info |
| Gene | PTEN |
| CLNDBN | not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Cowden syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89690828G>A; NC_000010.10:g.89690828G>T |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000034594.1, RCV000123046.4, RCV000129085.3, RCV000201317.2, RCV000409443.1, RCV000459127.1, |
