rs397507249
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (T;T) | 0 | common in clinvar |
| Make rs397507249(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43049141 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507249 |
| dbSNP (classic) | rs397507249 |
| ClinGen | rs397507249 |
| ebi | rs397507249 |
| HLI | rs397507249 |
| Exac | rs397507249 |
| Gnomad | rs397507249 |
| Varsome | rs397507249 |
| LitVar | rs397507249 |
| Map | rs397507249 |
| PheGenI | rs397507249 |
| Biobank | rs397507249 |
| 1000 genomes | rs397507249 |
| hgdp | rs397507249 |
| ensembl | rs397507249 |
| geneview | rs397507249 |
| scholar | rs397507249 |
| rs397507249 | |
| pharmgkb | rs397507249 |
| gwascentral | rs397507249 |
| openSNP | rs397507249 |
| 23andMe | rs397507249 |
| SNPshot | rs397507249 |
| SNPdbe | rs397507249 |
| MSV3d | rs397507249 |
| GWAS Ctlg | rs397507249 |
| Max Magnitude | 6 |
BRCA1, c.5386delT (p.Ser1796Hisfs)
| ClinVar | |
|---|---|
| Risk | rs397507249(-;-) |
| Alt | rs397507249(-;-) |
| Reference | Rs397507249(T;T) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41201158delA |
| CLNSRC | ClinVar |
| CLNACC | RCV000031243.5, |
