rs397509212
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs397509212(A;G) |
| Make rs397509212(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43067697 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397509212 |
| dbSNP (classic) | rs397509212 |
| ClinGen | rs397509212 |
| ebi | rs397509212 |
| HLI | rs397509212 |
| Exac | rs397509212 |
| Gnomad | rs397509212 |
| Varsome | rs397509212 |
| LitVar | rs397509212 |
| Map | rs397509212 |
| PheGenI | rs397509212 |
| Biobank | rs397509212 |
| 1000 genomes | rs397509212 |
| hgdp | rs397509212 |
| ensembl | rs397509212 |
| geneview | rs397509212 |
| scholar | rs397509212 |
| rs397509212 | |
| pharmgkb | rs397509212 |
| gwascentral | rs397509212 |
| openSNP | rs397509212 |
| 23andMe | rs397509212 |
| SNPshot | rs397509212 |
| SNPdbe | rs397509212 |
| MSV3d | rs397509212 |
| GWAS Ctlg | rs397509212 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs397509212(C;C) rs397509212(G;G) |
| Alt | rs397509212(C;C) rs397509212(G;G) |
| Reference | Rs397509212(A;A) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast not provided Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41219714T>C; NC_000017.10:g.41219714T>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000048726.4, RCV000212189.1, RCV000258325.1, RCV000226415.1, |
