Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1194611372 0.763 0.320 1 152032679 missense variant A/C snv 9
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs10094872 0.882 0.200 8 127707639 intron variant A/T snv 0.33 4
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs104894360 0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs8034191 0.695 0.440 15 78513681 intron variant T/C snv 0.27 24