Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs1060500091 0.882 0.120 3 128481887 missense variant A/C snv 4
rs4795519 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 1
rs628031 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 8
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1239681664 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
rs568887534 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 9
rs762613037 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 7
rs121913454 0.925 0.080 9 130874969 missense variant A/G snv 2
rs1057519772 1.000 0.080 9 130872895 missense variant A/G snv 1
rs121913450 1.000 0.080 9 130873016 missense variant A/G snv 1
rs121913456 1.000 0.080 9 130862943 missense variant A/G snv 1
rs1414109649 1.000 0.080 5 40765164 missense variant A/G snv 4.0E-06 1
rs34549764 1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03 1
rs768288452 1.000 0.080 22 23181822 missense variant A/G snv 4.1E-06 1
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
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