Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs587784347 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs63750687 0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs151344517 0.742 0.320 18 12337505 missense variant C/T snv 31
rs1555731819 0.807 0.200 19 35729980 missense variant G/T snv 26
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs4606 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 16
rs3173615 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs63750522 0.827 0.120 14 73173644 missense variant G/A;C snv 8
rs363371 0.882 0.120 10 117226885 TF binding site variant G/A snv 0.19 5
rs11866328 0.925 0.120 16 9768699 intron variant G/T snv 0.38 3
rs200660418 1.000 0.040 12 40310449 missense variant C/A;G;T snv 3
rs10772715 12 13885069 intron variant G/A snv 0.39 2
rs2192970 12 13683379 intron variant G/A snv 0.15 2