rs587782187
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 6.3 | PTEN hamartoma tumor syndrome |
| (G;T) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
| (T;T) | 0 | common in clinvar |
| Make rs587782187(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 87864517 |
| Gene | KLLN, PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587782187 |
| dbSNP (classic) | rs587782187 |
| ClinGen | rs587782187 |
| ebi | rs587782187 |
| HLI | rs587782187 |
| Exac | rs587782187 |
| Gnomad | rs587782187 |
| Varsome | rs587782187 |
| LitVar | rs587782187 |
| Map | rs587782187 |
| PheGenI | rs587782187 |
| Biobank | rs587782187 |
| 1000 genomes | rs587782187 |
| hgdp | rs587782187 |
| ensembl | rs587782187 |
| geneview | rs587782187 |
| scholar | rs587782187 |
| rs587782187 | |
| pharmgkb | rs587782187 |
| gwascentral | rs587782187 |
| openSNP | rs587782187 |
| 23andMe | rs587782187 |
| SNPshot | rs587782187 |
| SNPdbe | rs587782187 |
| MSV3d | rs587782187 |
| GWAS Ctlg | rs587782187 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs587782187(A;A) rs587782187(C;C) |
| Alt | rs587782187(A;A) rs587782187(C;C) |
| Reference | Rs587782187(T;T) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not provided PTEN hamartoma tumor syndrome not specified |
| Variation | info |
| Gene | PTEN LOC101929706 KLLN |
| CLNDBN | Hereditary cancer-predisposing syndrome not provided PTEN hamartoma tumor syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89624274T>A; NC_000010.10:g.89624274T>C |
| CLNSRC | |
| CLNACC | RCV000130817.4, RCV000212878.1, RCV000477134.1, RCV000196280.1, RCV000429131.1, |
