Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4810485 0.732 0.480 20 46119308 intron variant T/A;G snv 16
rs842647
REL
0.827 0.400 2 60892336 intron variant G/A snv 0.62 6
rs157077 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 3
rs1001761 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 2
rs11191979 10 104265109 intron variant T/C snv 0.23 1
rs12919719 16 68788438 intron variant C/G snv 0.25 1
rs7196495 16 68739957 intron variant C/G;T snv 1
rs7196661 16 68740009 intron variant C/T snv 0.80 1
rs9989407 16 68730609 intergenic variant C/A;G;T snv 1
rs771656368 0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 3
rs769255883
XPA
1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 2
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101