Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8187710 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 6
rs3740066 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs717620 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 10
rs1474798132 0.925 0.120 7 99665170 synonymous variant T/A;C snv 4.0E-06; 4.0E-06 2
rs777175289 1.000 0.080 7 99664085 synonymous variant T/C snv 4.5E-06 1
rs4743325 1.000 0.080 9 99087445 intergenic variant G/T snv 0.24 1
rs7040869 1.000 0.080 9 99072866 downstream gene variant G/A snv 0.11 2
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
rs761032372 0.925 0.200 3 9759215 missense variant C/A;T snv 8.0E-06 2
rs1180868926 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 2
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs12541709 1.000 0.080 8 9751081 intron variant C/G snv 0.29 2
rs26618 0.882 0.200 5 96795133 missense variant T/A;C;G snv 0.22 0.22 3
rs7015700 1.000 0.080 8 9670197 splice donor variant G/A snv 0.23 2
rs3910384 1.000 0.080 11 9578396 non coding transcript exon variant A/G;T snv 1
rs10503380 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 2
rs11991621 1.000 0.080 8 9549072 intergenic variant C/T snv 0.18 2
rs11622887 1.000 0.080 14 95476110 upstream gene variant A/C snv 0.52 2
rs6601328 1.000 0.080 8 9545693 regulatory region variant G/A;C snv 2
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs16950650 1.000 0.080 13 95123178 intron variant C/T snv 4.7E-02 2
rs4244285 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 18
rs4986893 0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03 5
rs868063722 1.000 0.080 10 94775077 missense variant C/T snv 1