Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs10889677 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 40
rs55819519 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 40
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32