Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv 82
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
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
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
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
rs1127354 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26