rs397508972
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;CCCCT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs397508972(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43093043 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508972 |
| dbSNP (classic) | rs397508972 |
| ClinGen | rs397508972 |
| ebi | rs397508972 |
| HLI | rs397508972 |
| Exac | rs397508972 |
| Gnomad | rs397508972 |
| Varsome | rs397508972 |
| LitVar | rs397508972 |
| Map | rs397508972 |
| PheGenI | rs397508972 |
| Biobank | rs397508972 |
| 1000 genomes | rs397508972 |
| hgdp | rs397508972 |
| ensembl | rs397508972 |
| geneview | rs397508972 |
| scholar | rs397508972 |
| rs397508972 | |
| pharmgkb | rs397508972 |
| gwascentral | rs397508972 |
| openSNP | rs397508972 |
| 23andMe | rs397508972 |
| SNPshot | rs397508972 |
| SNPdbe | rs397508972 |
| MSV3d | rs397508972 |
| GWAS Ctlg | rs397508972 |
| Max Magnitude | 6 |
aka c.2487_2488insCCCCT
| ClinVar | |
|---|---|
| Risk | rs397508972(CCCCT;CCCCT) rs397508972(T;T) |
| Alt | rs397508972(CCCCT;CCCCT) rs397508972(T;T) |
| Reference | Rs397508972(-;-) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41245060_41245061insAGGGG; NC_000017.10:g.41245061dupA |
| CLNSRC | ClinVar |
| CLNACC | RCV000257021.2, RCV000047860.2, RCV000257551.2, |
