Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs13303010 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 2
rs7993418 0.925 0.120 13 28308924 synonymous variant G/A snv 0.80 0.67 2
rs1143684 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 4
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs5219 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs169068 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 12
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs2470353 0.925 0.120 3 14148768 intron variant G/A;C;T snv 0.41; 1.5E-04 2
rs9904341 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs4619 0.882 0.160 7 45893070 missense variant A/G snv 0.36 0.38 3
rs1799966 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 8
rs698 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 20
rs1693482 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 12
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs3729587
XPC
0.925 0.120 3 14167125 intron variant G/C snv 0.31 0.34 2
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs1129055 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 15