rs80358011
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | Normal |
| (A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs80358011(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43104263 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358011 |
| dbSNP (classic) | rs80358011 |
| ClinGen | rs80358011 |
| ebi | rs80358011 |
| HLI | rs80358011 |
| Exac | rs80358011 |
| Gnomad | rs80358011 |
| Varsome | rs80358011 |
| LitVar | rs80358011 |
| Map | rs80358011 |
| PheGenI | rs80358011 |
| Biobank | rs80358011 |
| 1000 genomes | rs80358011 |
| hgdp | rs80358011 |
| ensembl | rs80358011 |
| geneview | rs80358011 |
| scholar | rs80358011 |
| rs80358011 | |
| pharmgkb | rs80358011 |
| gwascentral | rs80358011 |
| openSNP | rs80358011 |
| 23andMe | rs80358011 |
| SNPshot | rs80358011 |
| SNPdbe | rs80358011 |
| MSV3d | rs80358011 |
| GWAS Ctlg | rs80358011 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs80358011(C;C) rs80358011(G;G) rs80358011(T;T) |
| Alt | rs80358011(C;C) rs80358011(G;G) rs80358011(T;T) |
| Reference | Rs80358011(A;A) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41256280T>A; NC_000017.10:g.41256280T>C; NC_000017.10:g.41256280T>G |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000112248.1, RCV000048046.2, RCV000258368.1, RCV000031081.4, RCV000048045.2, |
