rs80356929
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (T;T) | 0 | common in clinvar |
| Make rs80356929(A;A) |
| Make rs80356929(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43124044 |
| Gene | BRCA1, NBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356929 |
| dbSNP (classic) | rs80356929 |
| ClinGen | rs80356929 |
| ebi | rs80356929 |
| HLI | rs80356929 |
| Exac | rs80356929 |
| Gnomad | rs80356929 |
| Varsome | rs80356929 |
| LitVar | rs80356929 |
| Map | rs80356929 |
| PheGenI | rs80356929 |
| Biobank | rs80356929 |
| 1000 genomes | rs80356929 |
| hgdp | rs80356929 |
| ensembl | rs80356929 |
| geneview | rs80356929 |
| scholar | rs80356929 |
| rs80356929 | |
| pharmgkb | rs80356929 |
| gwascentral | rs80356929 |
| openSNP | rs80356929 |
| 23andMe | rs80356929 |
| SNPshot | rs80356929 |
| SNPdbe | rs80356929 |
| MSV3d | rs80356929 |
| GWAS Ctlg | rs80356929 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs80356929(A;A) rs80356929(C;C) |
| Alt | rs80356929(A;A) rs80356929(C;C) |
| Reference | Rs80356929(T;T) |
| Significance | Other |
| Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | NBR2 BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41276061A>G; NC_000017.10:g.41276061A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000031245.5, RCV000048972.4, RCV000131693.3, RCV000212154.1, RCV000048971.2, RCV000111654.1, |
