rs1799950

A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is C;C: very slightly increased breast cancer risk

Gene
BRCA1
Location
Chr 1743,094,464 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
3%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodnormal breast cancer riskTypical · 0.098% of people
  2. C;TBadvery slightly increased breast cancer riskMinor · 1.52% of people
  3. C;CMost notableBadvery slightly increased breast cancer riskWorth knowing · 2.00% of people

SNPedia records rs1799950 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageT;T 98% C;T 2% C;C 0%
  • European ancestry (Utah)T;T 92% C;T 8% C;C 0%
  • Han Chinese (Beijing)T;T 99% C;T <1% C;C 0%
  • Japanese (Tokyo)T;T 100% C;T 0% C;C 0%
  • Yoruba (Nigeria)T;T 100% C;T 0% C;C 0%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 120 words

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. 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). The orientation has been changed to minus manually. We'll see what the bots do to it, with the next major update.

Source and license

Adapted from rs1799950 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.