Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913369 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 12
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs112295309 1.000 0.080 8 143813896 missense variant T/C;G snv 6.1E-04 3
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs11134527 0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115