rs397507785
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (T;T) | 0 | common in clinvar |
| Make rs397507785(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32339794 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507785 |
| dbSNP (classic) | rs397507785 |
| ClinGen | rs397507785 |
| ebi | rs397507785 |
| HLI | rs397507785 |
| Exac | rs397507785 |
| Gnomad | rs397507785 |
| Varsome | rs397507785 |
| LitVar | rs397507785 |
| Map | rs397507785 |
| PheGenI | rs397507785 |
| Biobank | rs397507785 |
| 1000 genomes | rs397507785 |
| hgdp | rs397507785 |
| ensembl | rs397507785 |
| geneview | rs397507785 |
| scholar | rs397507785 |
| rs397507785 | |
| pharmgkb | rs397507785 |
| gwascentral | rs397507785 |
| openSNP | rs397507785 |
| 23andMe | rs397507785 |
| SNPshot | rs397507785 |
| SNPdbe | rs397507785 |
| MSV3d | rs397507785 |
| GWAS Ctlg | rs397507785 |
| Merged from | Rs863224466 |
| Max Magnitude | 6 |
aka c.5439delT (p.Val1814Terfs)
23andMe name: i5009099
| ClinVar | |
|---|---|
| Risk | rs397507785(-;-) |
| Alt | rs397507785(-;-) |
| Reference | Rs397507785(T;T) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32913931delT |
| CLNSRC | ClinVar |
| CLNACC | RCV000044661.2, RCV000198909.1, RCV000241279.1, |
