Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs470558 1.000 0.040 11 102795585 synonymous variant T/C snv 0.92 0.95 1
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs7297245
HAL
0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 4
rs471692 0.925 0.080 17 40400518 intron variant T/A;C snv 0.79 3
rs26279 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 9
rs8305 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 4
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1340420 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 3
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
rs16891982 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
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
rs7208422 0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 6
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs3846662 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 12
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
rs602662 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 16
rs17568 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 12
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs3732183 1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40 1
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1050631 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 4
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58