Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12615966 0.882 0.080 2 104762499 upstream gene variant C/T snv 0.14 3
rs17109928 0.882 0.080 10 94338336 intron variant T/C;G snv 0.15 3
rs2057314 0.882 0.080 6 117498194 intron variant A/G snv 0.61 3
rs2689154 0.882 0.080 1 238745053 intergenic variant C/A;G;T snv 3
rs1051690 0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83 4
rs4460629 0.882 0.080 1 155162859 intergenic variant T/C snv 0.56 4
rs4998557 0.851 0.080 21 31662579 intron variant G/A snv 0.22 4
rs753724 0.882 0.080 10 94291660 intron variant G/A;C;T snv 4
rs12904 0.827 0.160 1 155134221 3 prime UTR variant G/A snv 0.40 5
rs2288947 0.827 0.160 19 5562104 3 prime UTR variant G/A snv 0.45 5
rs3781264 0.851 0.120 10 94310618 intron variant A/G snv 0.25 5
rs9502893 0.827 0.120 6 1339954 intergenic variant C/G;T snv 5
rs115797771 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 6
rs1562430 0.807 0.160 8 127375606 intron variant T/C snv 0.41 6
rs1924966 0.807 0.080 13 72432915 intergenic variant T/G snv 0.33 6
rs3130 0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv 6
rs4963 0.827 0.120 4 2915035 missense variant C/G;T snv 0.20 0.18 6
rs5273 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 6
rs6672420 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 6
rs373129709 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 7
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs13252298 0.827 0.160 8 127082911 non coding transcript exon variant A/G snv 0.24 8
rs2178146 0.827 0.080 16 86430089 downstream gene variant T/C snv 0.31 8
rs34743033 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs6498486 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 8