rs4986854
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs4986854(C;C) |
| Make rs4986854(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43071031 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986854 |
| dbSNP (classic) | rs4986854 |
| ClinGen | rs4986854 |
| ebi | rs4986854 |
| HLI | rs4986854 |
| Exac | rs4986854 |
| Gnomad | rs4986854 |
| Varsome | rs4986854 |
| LitVar | rs4986854 |
| Map | rs4986854 |
| PheGenI | rs4986854 |
| Biobank | rs4986854 |
| 1000 genomes | rs4986854 |
| hgdp | rs4986854 |
| ensembl | rs4986854 |
| geneview | rs4986854 |
| scholar | rs4986854 |
| rs4986854 | |
| pharmgkb | rs4986854 |
| gwascentral | rs4986854 |
| openSNP | rs4986854 |
| 23andMe | rs4986854 |
| SNPshot | rs4986854 |
| SNPdbe | rs4986854 |
| MSV3d | rs4986854 |
| GWAS Ctlg | rs4986854 |
| GMAF | 0.004132 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4986854(C;C) |
| Alt | rs4986854(C;C) |
| Reference | Rs4986854(T;T) |
| Significance | Other |
| Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Neoplasm of breast Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Neoplasm of breast Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41223048A>G |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
| CLNACC | RCV000034754.3, RCV000048683.7, RCV000112415.4, RCV000120263.3, RCV000148381.1, RCV000162565.1, |
