Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
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
rs2043211 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs762613037 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 7
rs387906517 0.827 0.120 9 130862919 missense variant G/A snv 6
rs121913448 0.827 0.120 9 130862976 missense variant G/A snv 5
rs1057519773 0.851 0.160 9 130872901 missense variant T/A;C;G snv 4
rs121913451 0.851 0.160 9 130872903 missense variant C/A;G snv 4