Skip to main content

Table 2 Results of posterior probability analysis

From: Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities

Region Index SNP (locus) Chromosome SNPs in PPS (proportion) Proportion of SNPs in PPS (all SNPs) according to functional annotationa
High impact Moderate impact Low impact Modifier impact
1 rs13387042 (2q35) 2 42 (0.04) 0 (0) 0 (0) 0 (0) 1 (1.00)
2 rs10069690 (TERT) 5 224 (0.74) 0 (0) 0.009 (0.01) 0.027 (0.023) 0.964 (0.967)
3 rs889312 (MAP3K1) 5 802 (0.58) 0 (0) 0.005 (0.005) 0.012 (0.012) 0.983 (0.983)
4 rs2046210 (ESR1) 6 455 (0.44) 0 (0) 0.026 (0.019) 0.009 (0.01) 0.965 (0.971)
5 rs1562430 (8q24) 8 2954 (0.59) 0 (0) 0.001 (0.003) 0.001 (0.001) 0.997 (0.996)
6 rs10995190 (ZNF365) 10 716 (0.41) 0 (0) 0.007 (0.006) 0 (0.003) 0.993 (0.992)
7 rs704010 (ZMIZ1) 10 2108 (0.72) 0 (0) 0.001 (0.001) 0.007 (0.005) 0.992 (0.994)
8 rs2981579 (FGFR2) 10 2827 (0.59) 0.0004 (0.0002) 0.01 (0.011) 0.007 (0.008) 0.982 (0.981)
9 rs614367 (11q13) 11 11 (0.007) 0 (0) 0 (0.007) 0 (0.002) 1 (0.990)
10 rs999737 (RAD51B) 14 2451 (0.77) 0 (0.0003) 0.004 (0.005) 0.003 (0.003) 0.993 (0.991)
11 rs3803662 (TOX3) 16 850 (0.55) 0 (0) 0.001 (0.003) 0.007 (0.006) 0.992 (0.991)
12 rs8170 (MERIT40) 19 2274 (0.79) 0 (0) 0.035 (0.035) 0.049 (0.047) 0.916 (0.917)
  1. PPS Posterior probability set, SNP Single-nucleotide polymorphism
  2. Results are shown for PPSs and proportions of PPS SNPs by functional annotations compared with the overall distribution of annotations by region
  3. aAs defined by SnpEff [43]
\