Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 181
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 42
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 23
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 17
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 9
rs147001633 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 9
rs10251201 0.851 0.160 7 7932654 intron variant T/A;C snv 4
rs974120 0.851 0.200 8 2789080 intron variant T/C;G snv 4
rs10405859 0.882 0.080 19 45099523 intron variant T/C snv 0.48 3
rs9318227 0.882 0.080 13 73926833 intron variant T/A;C snv 3