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 4
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 2
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 2
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 2
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 1
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 2
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 1
rs147001633 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 1
rs377577594 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 1
rs387906631 0.882 0.080 3 128481901 missense variant G/A snv 2
rs1169288572 1.000 0.040 3 47122237 missense variant C/T snv 8.0E-06 7.0E-06 1
rs387906629 0.925 0.080 3 128481270 missense variant G/A snv 1
rs754921650 1.000 0.040 3 47120446 missense variant T/C snv 1.2E-05 2.1E-05 1
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 2
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 2
rs569067880 0.925 0.080 4 105234864 missense variant G/A;C snv 4.0E-06; 4.0E-06 2
rs1057519709
KIT
0.925 0.080 4 54733154 missense variant GA/AT mnv 1
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 1
rs869312828 0.807 0.080 5 177512369 missense variant C/T snv 1
rs111033563 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 1
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 1
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 3
rs121912472 0.925 0.080 9 5073742 missense variant G/C snv 1
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 1
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 2