rs80359013
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (G;G) | 0 | common in clinvar |
| Make rs80359013(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32362595 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359013 |
| dbSNP (classic) | rs80359013 |
| ClinGen | rs80359013 |
| ebi | rs80359013 |
| HLI | rs80359013 |
| Exac | rs80359013 |
| Gnomad | rs80359013 |
| Varsome | rs80359013 |
| LitVar | rs80359013 |
| Map | rs80359013 |
| PheGenI | rs80359013 |
| Biobank | rs80359013 |
| 1000 genomes | rs80359013 |
| hgdp | rs80359013 |
| ensembl | rs80359013 |
| geneview | rs80359013 |
| scholar | rs80359013 |
| rs80359013 | |
| pharmgkb | rs80359013 |
| gwascentral | rs80359013 |
| openSNP | rs80359013 |
| 23andMe | rs80359013 |
| SNPshot | rs80359013 |
| SNPdbe | rs80359013 |
| MSV3d | rs80359013 |
| GWAS Ctlg | rs80359013 |
| Max Magnitude | 6 |
aka c.7878G>C (p.Trp2626Cys) and also c.7878G>A (p.Trp2626Ter), both pathogenic for breast cancer
23andMe name for c.7878G>C: i5009321
| ClinVar | |
|---|---|
| Risk | rs80359013(A;A) rs80359013(C;C) |
| Alt | rs80359013(A;A) rs80359013(C;C) |
| Reference | Rs80359013(G;G) |
| Significance | Other |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32936732G>A; NC_000013.10:g.32936732G>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000031706.7, RCV000045335.3, RCV000217125.1, RCV000237084.1, RCV000031707.7, RCV000045336.4, RCV000163025.2, RCV000482471.1, |
