Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs4994 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs780094 0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1801275 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 58
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs6214 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26