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
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
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
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
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 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
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
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs752746786 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
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