Table 1.

Association of a missense variant (rs139379666, P2974L) in ATM with breast cancer risk

ChrPosition(hg19)AlleleaFrequency in casesbFrequency in controlsbPc
Combing samples from population I & II (cases/controls: 5,411/7,534)
11108235879C/T0.09 (10/5,411)0 (0/7,534)1.6 × 10−4
Samples from population III (cases/controls: 1,793/2,059)
11108235879C/T0.08 (3/1,793)0 (0/2,059)0.10
Combing samples from population I, II, & III (cases/controls: 7,204/9,593)
11108235879C/T0.09 (13/7,204)0 (0/9,593)1.7 × 10−5
  • aReference/risk allele; risk alleles are shown in bold.

  • bRisk allele frequency (%).

  • cP value derived from Fisher exact test under additive model.