Rs1799950

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dbSNPrs1799950
hapmaprs1799950
hgdprs1799950
ensemblrs1799950
gopubmedrs1799950
scholarrs1799950
googlers1799950
pharmgkbrs1799950
hgvbaseg2prs1799950
medrefsnprs1799950
23andMers1799950
SNP Nexus

GeneBRCA1
Chromosome17
Orientationminus
Position38500006
GenotypeEffect
rs1799950(A;A)increased breast cancer risk
rs1799950(A;G)increased breast cancer risk
rs1799950(G;G)normal breast cancer risk


Genotypes Magnitude Summary
Rs1799950(A;A) 00 increased breast cancer risk
Rs1799950(A;G) increased breast cancer risk
Rs1799950(G;G) 22 normal breast cancer risk
This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

This particular SNP, rs1799950, was actually the only SNP of the 25 to have an increased odds ratio for breast cancer to be over 1.5 in carriers and to also be present at a minor allele frequency of over 5%. The odds ratio calculated was 1.72 (P = 0.0002). The risk (minor) allele is (G).

? (A;A) (A;G) (G;G)