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
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
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
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs104894229 0.564 0.600 11 534289 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
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs3918242 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
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