Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39