rs397507683
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| Make rs397507683(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32338106 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507683 |
| dbSNP (classic) | rs397507683 |
| ClinGen | rs397507683 |
| ebi | rs397507683 |
| HLI | rs397507683 |
| Exac | rs397507683 |
| Gnomad | rs397507683 |
| Varsome | rs397507683 |
| LitVar | rs397507683 |
| Map | rs397507683 |
| PheGenI | rs397507683 |
| Biobank | rs397507683 |
| 1000 genomes | rs397507683 |
| hgdp | rs397507683 |
| ensembl | rs397507683 |
| geneview | rs397507683 |
| scholar | rs397507683 |
| rs397507683 | |
| pharmgkb | rs397507683 |
| gwascentral | rs397507683 |
| openSNP | rs397507683 |
| 23andMe | rs397507683 |
| SNPshot | rs397507683 |
| SNPdbe | rs397507683 |
| MSV3d | rs397507683 |
| GWAS Ctlg | rs397507683 |
| Max Magnitude | 6 |
aka c.3751dupA (p.Thr1251Asnfs)
| ClinVar | |
|---|---|
| Risk | rs397507683(A;A) |
| Alt | rs397507683(A;A) |
| Reference | Rs397507683(-;-) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32912243dupA |
| CLNSRC | ClinVar |
| CLNACC | RCV000044257.3, RCV000241325.2, |
