rs1800054
A SNP in the ATM gene on chromosome 11. Its most notable genotype is G;G: 1.5x increased risk for breast cancer
- Gene
- ATM
- Location
- Chr 11108,227,849 (GRCh38)
- Highest magnitude
- 1.5Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon on affy axiom data
- C;GNot ratedvery slightly increased risk (1.05) for breast cancer
- G;GMost notableNot rated1.5x increased risk for breast cancer
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ATM SNPs
- rs147557621G;TBreast cancer associated mutationVery important
- rs200976093C;TBreast cancer associated mutationVery important
- rs376170600C;GBreast cancer associated mutationVery important
- rs376603775C;TBreast cancer associated mutationVery important
- rs529296539C;GBreast cancer associated mutationVery important
- rs587776551A;GBreast cancer associated mutationVery important
- rs587778080C;TBreast cancer associated mutationVery important
- rs587779813A;GBreast cancer associated mutationVery important
Notes
From SNPedia
Notes
rs1800054, also known as S49C, is a SNP in the ATM gene. A large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one. A common coding variant in CASP8 is associated with breast cancer risk. Two-stage case-control study of common ATM gene variants in relation to breast cancer risk. Single-nucleotide polymorphisms in the p53 signaling pathway. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
Source and license
Adapted from rs1800054 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.