rs145988146
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (C;C) | 0 | common in clinvar |
| (C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (C;T) | 1 | benign |
| Make rs145988146(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32319282 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145988146 |
| dbSNP (classic) | rs145988146 |
| ClinGen | rs145988146 |
| ebi | rs145988146 |
| HLI | rs145988146 |
| Exac | rs145988146 |
| Gnomad | rs145988146 |
| Varsome | rs145988146 |
| LitVar | rs145988146 |
| Map | rs145988146 |
| PheGenI | rs145988146 |
| Biobank | rs145988146 |
| 1000 genomes | rs145988146 |
| hgdp | rs145988146 |
| ensembl | rs145988146 |
| geneview | rs145988146 |
| scholar | rs145988146 |
| rs145988146 | |
| pharmgkb | rs145988146 |
| gwascentral | rs145988146 |
| openSNP | rs145988146 |
| 23andMe | rs145988146 |
| SNPshot | rs145988146 |
| SNPdbe | rs145988146 |
| MSV3d | rs145988146 |
| GWAS Ctlg | rs145988146 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs145988146(A;A) rs145988146(G;G) rs145988146(T;T) |
| Alt | rs145988146(A;A) rs145988146(G;G) rs145988146(T;T) |
| Reference | Rs145988146(C;C) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32893419C>A; NC_000013.10:g.32893419C>G; NC_000013.10:g.32893419C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000044045.2, RCV000241355.2, RCV000044046.2, RCV000257002.2, RCV000164459.1, RCV000204240.3, RCV000444330.1, |
