Rs169547
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs169547 |
| hapmap | rs169547 |
| hgdp | rs169547 |
| ensembl | rs169547 |
| gopubmed | rs169547 |
| scholar | rs169547 |
| rs169547 | |
| pharmgkb | rs169547 |
| hgvbaseg2p | rs169547 |
| medrefsnp | rs169547 |
| 23andMe | rs169547 |
| SNP Nexus |
| Gene | BRCA2 |
| Chromosome | 13 |
| Orientation | minus |
| Position | 31827386 |
| Genotype | Effect |
|---|---|
| rs169547(A;A)* | ? |
| rs169547(A;G)* | ? |
| rs169547(G;G)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | BRCA2 |
| allele | C |
| frequency | 1 |
| sift | TOLERATED |
| HuRef | 1103649191238 |
| Disease Association | Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) (MIM:600185, 114480). BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer. |
| ? | (A;G) (G;G) |
|---|---|
|
| |
