Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
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
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
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19
rs1470755915 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs927698341 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs869312828 0.807 0.080 5 177512369 missense variant C/T snv 7
rs1408538785 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 6
rs138817062
PML
0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 4