rs397508952
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (AA;AA) | 0 | common in clinvar |
| Make rs397508952(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43093314 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508952 |
| dbSNP (classic) | rs397508952 |
| ClinGen | rs397508952 |
| ebi | rs397508952 |
| HLI | rs397508952 |
| Exac | rs397508952 |
| Gnomad | rs397508952 |
| Varsome | rs397508952 |
| LitVar | rs397508952 |
| Map | rs397508952 |
| PheGenI | rs397508952 |
| Biobank | rs397508952 |
| 1000 genomes | rs397508952 |
| hgdp | rs397508952 |
| ensembl | rs397508952 |
| geneview | rs397508952 |
| scholar | rs397508952 |
| rs397508952 | |
| pharmgkb | rs397508952 |
| gwascentral | rs397508952 |
| openSNP | rs397508952 |
| 23andMe | rs397508952 |
| SNPshot | rs397508952 |
| SNPdbe | rs397508952 |
| MSV3d | rs397508952 |
| GWAS Ctlg | rs397508952 |
| Max Magnitude | 6 |
rs397508952 has merged into rs80357802
| ClinVar | |
|---|---|
| Risk | rs397508952(-;-) |
| Alt | rs397508952(-;-) |
| Reference | Rs397508952(AA;AA) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast not provided Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast not provided Breast-ovarian cancer, familial 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41245331_41245332delTT |
| CLNSRC | ClinVar |
| CLNACC | RCV000047764.3, RCV000235592.1, RCV000238948.3, |
