rs80357498
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (G;G) | 0 | Normal |
| (G;T) | 3.3 | BRCA1 variant possibly pathogenic for breast cancer, but significance unclear |
| Make rs80357498(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43115744 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357498 |
| dbSNP (classic) | rs80357498 |
| ClinGen | rs80357498 |
| ebi | rs80357498 |
| HLI | rs80357498 |
| Exac | rs80357498 |
| Gnomad | rs80357498 |
| Varsome | rs80357498 |
| LitVar | rs80357498 |
| Map | rs80357498 |
| PheGenI | rs80357498 |
| Biobank | rs80357498 |
| 1000 genomes | rs80357498 |
| hgdp | rs80357498 |
| ensembl | rs80357498 |
| geneview | rs80357498 |
| scholar | rs80357498 |
| rs80357498 | |
| pharmgkb | rs80357498 |
| gwascentral | rs80357498 |
| openSNP | rs80357498 |
| 23andMe | rs80357498 |
| SNPshot | rs80357498 |
| SNPdbe | rs80357498 |
| MSV3d | rs80357498 |
| GWAS Ctlg | rs80357498 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs80357498(A;A) rs80357498(T;T) |
| Alt | rs80357498(A;A) rs80357498(T;T) |
| Reference | Rs80357498(G;G) |
| Significance | Other |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41267761C>A; NC_000017.10:g.41267761C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000030974.3, RCV000206829.1, RCV000030973.5, RCV000047370.2, RCV000222558.1, RCV000235619.1, |
