rs139052578
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| Make rs139052578(A;A) |
| Make rs139052578(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 13 |
| Position | 32379503 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139052578 |
| dbSNP (classic) | rs139052578 |
| ClinGen | rs139052578 |
| ebi | rs139052578 |
| HLI | rs139052578 |
| Exac | rs139052578 |
| Gnomad | rs139052578 |
| Varsome | rs139052578 |
| LitVar | rs139052578 |
| Map | rs139052578 |
| PheGenI | rs139052578 |
| Biobank | rs139052578 |
| 1000 genomes | rs139052578 |
| hgdp | rs139052578 |
| ensembl | rs139052578 |
| geneview | rs139052578 |
| scholar | rs139052578 |
| rs139052578 | |
| pharmgkb | rs139052578 |
| gwascentral | rs139052578 |
| openSNP | rs139052578 |
| 23andMe | rs139052578 |
| SNPshot | rs139052578 |
| SNPdbe | rs139052578 |
| MSV3d | rs139052578 |
| GWAS Ctlg | rs139052578 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs139052578(A;A) rs139052578(T;T) |
| Alt | rs139052578(A;A) rs139052578(T;T) |
| Reference | Rs139052578(G;G) |
| Significance | Pathogenic |
| Disease | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32953640G>A; NC_000013.10:g.32953640G>T |
| CLNSRC | |
| CLNACC | RCV000034470.1, RCV000045661.4, RCV000130691.3, RCV000212283.2, RCV000257646.2, |
