Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1188536960 0.882 0.120 15 45043305 missense variant A/G snv 5
rs780439043 0.925 0.080 7 55205301 missense variant A/G snv 8.0E-06 1.4E-05 3
rs138106763 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 2
rs1400826115 1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06 2
rs1051992 11 6319476 missense variant A/G snv 4.2E-06; 0.55 0.51 1
rs7717457 5 40887679 intergenic variant A/G snv 0.23 1
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs4646903 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs1550117 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
rs246079
UNG
0.790 0.120 12 109109255 intron variant A/G;T snv 9
rs267601395 0.925 0.160 7 148811636 missense variant A/G;T snv 7
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1057519903 0.683 0.080 1 226064434 missense variant A/T snv 28
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 21
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs762551 0.701 0.400 15 74749576 intron variant C/A snv 0.67 23