Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
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
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 21
rs755174338 0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05 15
rs559063155 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs745564626 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 14
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