rs80358165
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (C;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (G;G) | 0 | common in clinvar |
| Make rs80358165(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43063869 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358165 |
| dbSNP (classic) | rs80358165 |
| ClinGen | rs80358165 |
| ebi | rs80358165 |
| HLI | rs80358165 |
| Exac | rs80358165 |
| Gnomad | rs80358165 |
| Varsome | rs80358165 |
| LitVar | rs80358165 |
| Map | rs80358165 |
| PheGenI | rs80358165 |
| Biobank | rs80358165 |
| 1000 genomes | rs80358165 |
| hgdp | rs80358165 |
| ensembl | rs80358165 |
| geneview | rs80358165 |
| scholar | rs80358165 |
| rs80358165 | |
| pharmgkb | rs80358165 |
| gwascentral | rs80358165 |
| openSNP | rs80358165 |
| 23andMe | rs80358165 |
| SNPshot | rs80358165 |
| SNPdbe | rs80358165 |
| MSV3d | rs80358165 |
| GWAS Ctlg | rs80358165 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs80358165(A;A) rs80358165(C;C) |
| Alt | rs80358165(A;A) rs80358165(C;C) |
| Reference | Rs80358165(G;G) |
| Significance | Other |
| Disease | Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41215886C>G; NC_000017.10:g.41215886C>T |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000204262.3, RCV000048824.2, RCV000083217.4, |
