Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs3024496 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 6
rs842647
REL
0.827 0.400 2 60892336 intron variant G/A snv 0.62 6
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1650697 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 3
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
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
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
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
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs2297235 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs876661024 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 11
rs11191439 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 6
rs1133400 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 4