rs398123324
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs398123324(G;T) |
| Make rs398123324(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 87864513 |
| Gene | KLLN, PTEN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123324 |
| dbSNP (classic) | rs398123324 |
| ClinGen | rs398123324 |
| ebi | rs398123324 |
| HLI | rs398123324 |
| Exac | rs398123324 |
| Gnomad | rs398123324 |
| Varsome | rs398123324 |
| LitVar | rs398123324 |
| Map | rs398123324 |
| PheGenI | rs398123324 |
| Biobank | rs398123324 |
| 1000 genomes | rs398123324 |
| hgdp | rs398123324 |
| ensembl | rs398123324 |
| geneview | rs398123324 |
| scholar | rs398123324 |
| rs398123324 | |
| pharmgkb | rs398123324 |
| gwascentral | rs398123324 |
| openSNP | rs398123324 |
| 23andMe | rs398123324 |
| SNPshot | rs398123324 |
| SNPdbe | rs398123324 |
| MSV3d | rs398123324 |
| GWAS Ctlg | rs398123324 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398123324(A;A) rs398123324(C;C) rs398123324(T;T) |
| Alt | rs398123324(A;A) rs398123324(C;C) rs398123324(T;T) |
| Reference | Rs398123324(G;G) |
| Significance | Probable-Pathogenic |
| Disease | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | PTEN LOC101929706 KLLN |
| CLNDBN | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89624270G>A; NC_000010.10:g.89624270G>C; NC_000010.10:g.89624270G>T |
| CLNSRC | |
| CLNACC | RCV000462758.1, RCV000480861.1, RCV000491951.1, RCV000078618.3, |
