Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs16999593 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 14
rs17420802 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 2
rs175080 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 9
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs188541504 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 3
rs200750564 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 6
rs202007462 1.000 0.040 1 179342120 missense variant T/C snv 1.2E-05 7.0E-06 1
rs2075789 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 6
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2228611 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 19
rs2232015 1.000 0.040 1 107056636 upstream gene variant A/G;T snv 1
rs2274911 0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 6
rs2477686 0.807 0.040 1 2461209 intron variant G/C snv 0.64 7
rs2656927 1.000 0.040 19 4908263 intron variant C/T snv 1.0E-01 1
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs2973631 1.000 0.040 5 23528117 3 prime UTR variant C/T snv 0.10 1
rs3197744 1.000 0.040 20 1937841 3 prime UTR variant G/T snv 0.50 1
rs35576928 1.000 0.040 16 11281137 missense variant C/A;G snv 8.7E-03; 4.0E-06 1
rs373341 1.000 0.040 6 42691014 intron variant T/C;G snv 0.49; 5.2E-05 1
rs3749897 1.000 0.040 6 42564364 missense variant C/G;T snv 0.43 1
rs3791185 1.000 0.040 1 107058247 3 prime UTR variant G/A snv 0.14 1
rs3819392
KIT
1.000 0.040 4 54660528 intron variant G/A snv 0.28 2