Variant SNP ID1 dbSNP ID Series Number of individuals Common homozygote No. (expected)2 Heterozygote No. (expected)2 Rare homozygote No. (expected)2 MAF3   p-value OR5 (95% CI)
v1 c.-78-73C/T N/A Cases 96 95 (95.00) 1 (0.99) 0 (0.00) 0.01 0.96 0.12083 0.192 (0.022-1.656)
      Controls 94 89 (89.07) 5 (4.87) 0 (0.07) 0.03 0.79
v2 c.-29A/C rs4647414 Cases 96 95 (95.00) 1 (0.99) 0 (0.00) 0.01 0.96 1.3386 2.953 (0.120-73.948)
      Controls 94 94 (94.00) 0 (0.00) 0 (0.00) 0 1
v3 c.816G/A rs34671520 Cases 96 92 (94.04) 4 (3.92) 0 (0.05) 0.02 0.84 0.13638 9.000 (0.481-168.331)
      Controls 94 94 (94.00) 0 (0.00) 0 (0.00) 0 1
v4 c.896+81 G/A rs4647512 Cases 96 76 (76.15) 19 (18.70) 1 (1.15) 0.11 0.88 0.02622 2.442 (1.088-5.482)
      Controls 92 85 (85.13) 9 (8.57) 0 (0.22) 0.05 0.7
v5 c.1155-38 T/C rs4647534 Cases 96 25 (29.26) 56 (47.48) 15 (19.26) 0.45 0.08 0.73754 1.072 (0.715-1.607)
      Controls 94 30 (30.45) 47 (46.10) 17 (17.45) 0.43 0.85
v6 c.1677+7C/T N/A Cases 96 92 (92.04) 4 (3.92) 0 (0.04) 0.02 0.84 0.13572 8.809 (0.471-164.772)
      Controls 92 92 (92.00) 0 (0.00) 0 (0.00) 0 1
1According to the nomenclature of the Human Genome Variation Society
2As expected under Hardy-Weinberg equilibrium
3Minor Allele Frequency
4p-value for deviation from Hardy-Weinberg equilibrium
5Odds Ratio (95% confidence interval)
Table 1: Sequence variations observed in FANCC gene and genotype frequencies in familial breast cancer cases and controls