rs397508063
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (G;G) | 0 | common in clinvar |
| Make rs397508063(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32396968 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508063 |
| dbSNP (classic) | rs397508063 |
| ClinGen | rs397508063 |
| ebi | rs397508063 |
| HLI | rs397508063 |
| Exac | rs397508063 |
| Gnomad | rs397508063 |
| Varsome | rs397508063 |
| LitVar | rs397508063 |
| Map | rs397508063 |
| PheGenI | rs397508063 |
| Biobank | rs397508063 |
| 1000 genomes | rs397508063 |
| hgdp | rs397508063 |
| ensembl | rs397508063 |
| geneview | rs397508063 |
| scholar | rs397508063 |
| rs397508063 | |
| pharmgkb | rs397508063 |
| gwascentral | rs397508063 |
| openSNP | rs397508063 |
| 23andMe | rs397508063 |
| SNPshot | rs397508063 |
| SNPdbe | rs397508063 |
| MSV3d | rs397508063 |
| GWAS Ctlg | rs397508063 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs397508063(A;A) rs397508063(T;T) |
| Alt | rs397508063(A;A) rs397508063(T;T) |
| Reference | Rs397508063(G;G) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32971105G>A; NC_000013.10:g.32971105G>T |
| CLNSRC | ClinVar Ambry Genetics |
| CLNACC | RCV000045858.2, RCV000257532.2, RCV000130020.2, |
