Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs3087386 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 8
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1799930 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 17
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs735482 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34