rs606231391
From SNPedia
| Merged into | rs273899699 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs606231391(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 43092425 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231391 |
| dbSNP (classic) | rs606231391 |
| ClinGen | rs606231391 |
| ebi | rs606231391 |
| HLI | rs606231391 |
| Exac | rs606231391 |
| Gnomad | rs606231391 |
| Varsome | rs606231391 |
| LitVar | rs606231391 |
| Map | rs606231391 |
| PheGenI | rs606231391 |
| Biobank | rs606231391 |
| 1000 genomes | rs606231391 |
| hgdp | rs606231391 |
| ensembl | rs606231391 |
| geneview | rs606231391 |
| scholar | rs606231391 |
| rs606231391 | |
| pharmgkb | rs606231391 |
| gwascentral | rs606231391 |
| openSNP | rs606231391 |
| 23andMe | rs606231391 |
| SNPshot | rs606231391 |
| SNPdbe | rs606231391 |
| MSV3d | rs606231391 |
| GWAS Ctlg | rs606231391 |
| Status | Merged into rs273899699 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs606231391(T;T) |
| Alt | rs606231391(T;T) |
| Reference | Rs606231391(;) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41244440dupA |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000031089.6, RCV000048072.2, RCV000130035.2, |
