rs273899694
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs273899694(-;T) |
| Make rs273899694(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43104865 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs273899694 |
| dbSNP (classic) | rs273899694 |
| ClinGen | rs273899694 |
| ebi | rs273899694 |
| HLI | rs273899694 |
| Exac | rs273899694 |
| Gnomad | rs273899694 |
| Varsome | rs273899694 |
| LitVar | rs273899694 |
| Map | rs273899694 |
| PheGenI | rs273899694 |
| Biobank | rs273899694 |
| 1000 genomes | rs273899694 |
| hgdp | rs273899694 |
| ensembl | rs273899694 |
| geneview | rs273899694 |
| scholar | rs273899694 |
| rs273899694 | |
| pharmgkb | rs273899694 |
| gwascentral | rs273899694 |
| openSNP | rs273899694 |
| 23andMe | rs273899694 |
| SNPshot | rs273899694 |
| SNPdbe | rs273899694 |
| MSV3d | rs273899694 |
| GWAS Ctlg | rs273899694 |
| Max Magnitude | 0 |
aka c.301+2dup; BRCA1 variant of uncertain significance according to ClinVar
| ClinVar | |
|---|---|
| Risk | rs273899694(T;T) |
| Alt | rs273899694(T;T) |
| Reference | Rs273899694(-;-) |
| Significance | Other |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41256883dupA |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000112241.1, RCV000467483.1, |
