Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519753 0.763 0.120 1 64846664 missense variant C/A snv 9
rs10821936 0.742 0.200 10 61963818 intron variant C/T snv 0.69 11
rs10994982 0.790 0.120 10 61950345 intron variant A/G snv 0.49 7
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs11978267 0.763 0.240 7 50398606 intron variant A/G snv 0.25 9
rs121909646 0.882 0.120 13 28018504 missense variant T/A;G snv 3
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs1470755915 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs17213693 0.925 0.120 6 32813344 intron variant G/C snv 9.8E-02 2
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs213210 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 11
rs2239633 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 12
rs2430561 0.590 0.760 12 68158742 intron variant T/A snv 0.36 50
rs2735383 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 18
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs7089424 0.752 0.200 10 61992400 intron variant T/G snv 0.32 10
rs797045145 0.807 0.240 6 26091479 stop gained G/A snv 6
rs80338880 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 12
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs9479
PML
0.851 0.120 15 74036235 3 prime UTR variant A/G snv 0.50 6
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614