rs397508973
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;AAGTATCCAT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (-;GTATCCAT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs397508973(AAGTATCCAT;AAGTATCCAT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43093033 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508973 |
| dbSNP (classic) | rs397508973 |
| ClinGen | rs397508973 |
| ebi | rs397508973 |
| HLI | rs397508973 |
| Exac | rs397508973 |
| Gnomad | rs397508973 |
| Varsome | rs397508973 |
| LitVar | rs397508973 |
| Map | rs397508973 |
| PheGenI | rs397508973 |
| Biobank | rs397508973 |
| 1000 genomes | rs397508973 |
| hgdp | rs397508973 |
| ensembl | rs397508973 |
| geneview | rs397508973 |
| scholar | rs397508973 |
| rs397508973 | |
| pharmgkb | rs397508973 |
| gwascentral | rs397508973 |
| openSNP | rs397508973 |
| 23andMe | rs397508973 |
| SNPshot | rs397508973 |
| SNPdbe | rs397508973 |
| MSV3d | rs397508973 |
| GWAS Ctlg | rs397508973 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs397508973(AAGTATCCAT;AAGTATCCAT) rs397508973(GTATCCAT;GTATCCAT) |
| Alt | rs397508973(AAGTATCCAT;AAGTATCCAT) rs397508973(GTATCCAT;GTATCCAT) |
| Reference | Rs397508973(-;-) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41245051_41245058dupATGGATAC; NC_000017.10:g.41245051_41245060dupATGGATACTT |
| CLNSRC | ClinVar |
| CLNACC | RCV000257678.2, RCV000047861.2, RCV000256693.2, RCV000484003.1, |
