Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs9527 10 102863821 3 prime UTR variant C/T snv 0.21 2
rs11191439 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 6
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs11191979 10 104265109 intron variant T/C snv 0.23 1
rs2297235 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs157077 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 3
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1133400 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 4
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs897453 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 2
rs2278952 1.000 0.080 17 17582270 5 prime UTR variant G/A snv 5.4E-02 2
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs3790064
PNP
14 20472910 non coding transcript exon variant A/G;T snv 1
rs3024496 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 6
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs9266150 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 3
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151