Rs1799944

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is asnp
is mentioned by
dbSNPrs1799944
hapmaprs1799944
hgdprs1799944
ensemblrs1799944
gopubmedrs1799944
scholarrs1799944
googlers1799944
pharmgkbrs1799944
hgvbaseg2prs1799944
medrefsnprs1799944
23andMers1799944
SNP Nexus

GeneBRCA2
Chromosome13
Orientationplus
Position31809462
GenotypeEffect
rs1799944(A;A)
rs1799944(A;G)*?
rs1799944(G;G)


Genotypes Magnitude Summary
Rs1799944(A;A) 00
Rs1799944(G;G) 22
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. [PMID 18024013]
? (A;A) (A;G)
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