rs80358344
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GTT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (GTT;GTT) | 0 | common in clinvar |
| Make rs80358344(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43067618 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358344 |
| dbSNP (classic) | rs80358344 |
| ClinGen | rs80358344 |
| ebi | rs80358344 |
| HLI | rs80358344 |
| Exac | rs80358344 |
| Gnomad | rs80358344 |
| Varsome | rs80358344 |
| LitVar | rs80358344 |
| Map | rs80358344 |
| PheGenI | rs80358344 |
| Biobank | rs80358344 |
| 1000 genomes | rs80358344 |
| hgdp | rs80358344 |
| ensembl | rs80358344 |
| geneview | rs80358344 |
| scholar | rs80358344 |
| rs80358344 | |
| pharmgkb | rs80358344 |
| gwascentral | rs80358344 |
| openSNP | rs80358344 |
| 23andMe | rs80358344 |
| SNPshot | rs80358344 |
| SNPdbe | rs80358344 |
| MSV3d | rs80358344 |
| GWAS Ctlg | rs80358344 |
| Max Magnitude | 6 |
aka c.5059_5061delGTT
| ClinVar | |
|---|---|
| Risk | rs80358344(-;-) |
| Alt | rs80358344(-;-) |
| Reference | Rs80358344(GTT;GTT) |
| Significance | Other |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41219635_41219637delAAC |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000048753.3, RCV000112479.1, RCV000130452.3, RCV000235533.1, |
