rs80356925
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (C;C) | 0 | Normal |
| (C;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs80356925(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43092928 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356925 |
| dbSNP (classic) | rs80356925 |
| ClinGen | rs80356925 |
| ebi | rs80356925 |
| HLI | rs80356925 |
| Exac | rs80356925 |
| Gnomad | rs80356925 |
| Varsome | rs80356925 |
| LitVar | rs80356925 |
| Map | rs80356925 |
| PheGenI | rs80356925 |
| Biobank | rs80356925 |
| 1000 genomes | rs80356925 |
| hgdp | rs80356925 |
| ensembl | rs80356925 |
| geneview | rs80356925 |
| scholar | rs80356925 |
| rs80356925 | |
| pharmgkb | rs80356925 |
| gwascentral | rs80356925 |
| openSNP | rs80356925 |
| 23andMe | rs80356925 |
| SNPshot | rs80356925 |
| SNPdbe | rs80356925 |
| MSV3d | rs80356925 |
| GWAS Ctlg | rs80356925 |
| Max Magnitude | 6 |
rs80356925, also known as S868X, c.2603C>G and p.Ser868Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i6008289
| ClinVar | |
|---|---|
| Risk | rs80356925(A;A) rs80356925(G;G) |
| Alt | rs80356925(A;A) rs80356925(G;G) |
| Reference | Rs80356925(C;C) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41244945G>C; NC_000017.10:g.41244945G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000031058.6, RCV000047897.4, RCV000162858.2, RCV000235126.2, RCV000047896.2, |
