Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs2082940 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 10
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2279115 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 18
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs267605077 0.925 0.080 17 7675212 missense variant A/G;T snv 3
rs2707765
APC
0.925 0.080 5 112786835 intron variant G/A;C;T snv 3
rs2735839 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 7
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs35767 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 13
rs3747531 0.925 0.080 8 16155139 missense variant G/A;C snv 3
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306