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, | 


