Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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 213
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 118
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 103
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 98
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 83
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 47
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 43
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 42
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 42
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 40
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38