rs80357463
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (T;T) | 0 | Normal |
| Make rs80357463(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43051098 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357463 |
| dbSNP (classic) | rs80357463 |
| ClinGen | rs80357463 |
| ebi | rs80357463 |
| HLI | rs80357463 |
| Exac | rs80357463 |
| Gnomad | rs80357463 |
| Varsome | rs80357463 |
| LitVar | rs80357463 |
| Map | rs80357463 |
| PheGenI | rs80357463 |
| Biobank | rs80357463 |
| 1000 genomes | rs80357463 |
| hgdp | rs80357463 |
| ensembl | rs80357463 |
| geneview | rs80357463 |
| scholar | rs80357463 |
| rs80357463 | |
| pharmgkb | rs80357463 |
| gwascentral | rs80357463 |
| openSNP | rs80357463 |
| 23andMe | rs80357463 |
| SNPshot | rs80357463 |
| SNPdbe | rs80357463 |
| MSV3d | rs80357463 |
| GWAS Ctlg | rs80357463 |
| Max Magnitude | 6 |
23andMe name: i5010039
| ClinVar | |
|---|---|
| Risk | rs80357463(A;A) rs80357463(G;G) |
| Alt | rs80357463(A;A) rs80357463(G;G) |
| Reference | Rs80357463(T;T) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41203115A>C; NC_000017.10:g.41203115A>T |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
| CLNACC | RCV000031237.6, RCV000048915.3, RCV000218342.1, RCV000258372.1, |
