Rs1799944

One form of this SNP, known as N991D for the nonsynonymous change it produces in the BRCA2 protein, has been reported to represent an increased risk for malignant melanoma. In a Polish study of ~600 patients in comparison with ~3700 controls, the rs1799944 SNP was found to have an odds ratio of 1.8. Patients with the homozygous rs1799944(G;G) genotype were present in 0.32% of malignant melanoma cases vs. 0.13% of controls.


 * is_associated_with_disease::Hereditary breast ovarian cancer
 * is_associated_with_disease::Melanoma