Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1290923018 0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 5
rs760943842 0.851 0.080 1 23362976 missense variant G/A snv 4.0E-05 1.4E-05 5
rs10235235 0.925 0.080 7 99478208 intron variant T/C snv 0.13 3
rs16917302 0.851 0.080 10 62501439 intron variant A/C snv 0.18 5
rs1989839 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 8
rs1201911038 8 122953143 missense variant G/A snv 4.0E-06 1
rs1161255880 1.000 0.040 9 113044209 missense variant T/C snv 7.0E-06 2
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs11177644 12 69391968 downstream gene variant A/G snv 0.40 1
rs762471803 0.925 0.040 11 102114201 missense variant T/G snv 6
rs2131877 0.827 0.080 3 195137645 intron variant G/A snv 0.20 5
rs9288516 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 6
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
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs3213245 0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 13
rs377566281 0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05 3
rs2257082 1.000 0.080 6 43524840 synonymous variant G/A snv 0.30 0.26 2
rs1057520009 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 9
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs760891242
XPC
0.925 0.080 3 14168309 missense variant G/C snv 4.0E-06 7.0E-06 3
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
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs3176683
XPA
9 97686335 intron variant A/G snv 3.8E-02 1
rs8371 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 4