Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs895520 0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs10165970 0.708 0.320 2 100840527 intron variant G/A snv 0.16 18
rs17024869 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 18
rs7581886 0.708 0.320 2 100964784 intron variant C/T snv 0.92 18
rs1042821 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs1057519921 0.763 0.240 2 177234231 missense variant T/C snv 10
rs4668123 0.851 0.280 2 169196995 missense variant C/A;G;T snv 6
rs587779067 0.882 0.200 2 47416399 missense variant C/G;T snv 5
rs2229629
HK2
0.882 0.120 2 74889400 missense variant G/A snv 6.0E-02 0.18 4
rs63751412 0.882 0.200 2 47429869 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 4
rs980303898 0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06 4
rs145733073 0.925 0.120 2 233682175 missense variant T/C;G snv 4.0E-06; 1.4E-04 2
rs767964519 0.925 0.120 2 177231869 missense variant T/C snv 4.0E-06 2
rs876661110 0.925 0.120 2 47791093 missense variant G/A snv 2
rs2035565 1.000 0.120 2 67392524 intron variant C/T snv 0.74 1
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs1129055 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 15
rs17281995 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 11
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8