Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs2430561 0.590 0.760 12 68158742 intron variant T/A snv 0.36 50
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs56149945 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs755622 0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs153109 0.623 0.600 16 28507775 intron variant T/C snv 0.43 37
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs752746786 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs2043211 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs1127354 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs57095329 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 25