rs397507339
From SNPedia
| Merged into | rs80359464 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (AG;AG) | 0 | common in clinvar |
| Make rs397507339(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32339067 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507339 |
| dbSNP (classic) | rs397507339 |
| ClinGen | rs397507339 |
| ebi | rs397507339 |
| HLI | rs397507339 |
| Exac | rs397507339 |
| Gnomad | rs397507339 |
| Varsome | rs397507339 |
| LitVar | rs397507339 |
| Map | rs397507339 |
| PheGenI | rs397507339 |
| Biobank | rs397507339 |
| 1000 genomes | rs397507339 |
| hgdp | rs397507339 |
| ensembl | rs397507339 |
| geneview | rs397507339 |
| scholar | rs397507339 |
| rs397507339 | |
| pharmgkb | rs397507339 |
| gwascentral | rs397507339 |
| openSNP | rs397507339 |
| 23andMe | rs397507339 |
| SNPshot | rs397507339 |
| SNPdbe | rs397507339 |
| MSV3d | rs397507339 |
| GWAS Ctlg | rs397507339 |
| Status | Merged into rs80359464 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs397507339(AG;AG) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32913204_32913205delAG |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000031500.8, RCV000044474.2, RCV000164613.2, RCV000213951.1, RCV000257921.1, |
