rs149330893
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (C;C) | 0 | common in clinvar |
| (C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| Make rs149330893(C;T) |
| Make rs149330893(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 13 |
| Position | 32340783 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149330893 |
| dbSNP (classic) | rs149330893 |
| ClinGen | rs149330893 |
| ebi | rs149330893 |
| HLI | rs149330893 |
| Exac | rs149330893 |
| Gnomad | rs149330893 |
| Varsome | rs149330893 |
| LitVar | rs149330893 |
| Map | rs149330893 |
| PheGenI | rs149330893 |
| Biobank | rs149330893 |
| 1000 genomes | rs149330893 |
| hgdp | rs149330893 |
| ensembl | rs149330893 |
| geneview | rs149330893 |
| scholar | rs149330893 |
| rs149330893 | |
| pharmgkb | rs149330893 |
| gwascentral | rs149330893 |
| openSNP | rs149330893 |
| 23andMe | rs149330893 |
| SNPshot | rs149330893 |
| SNPdbe | rs149330893 |
| MSV3d | rs149330893 |
| GWAS Ctlg | rs149330893 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs149330893(A;A) rs149330893(G;G) rs149330893(T;T) |
| Alt | rs149330893(A;A) rs149330893(G;G) rs149330893(T;T) |
| Reference | Rs149330893(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32914920C>A; NC_000013.10:g.32914920C>G; NC_000013.10:g.32914920C>T |
| CLNSRC | |
| CLNACC | RCV000230879.1, RCV000241501.1, RCV000257829.2, RCV000130744.2, |
