Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13016963 0.851 0.080 2 201298088 intron variant A/G snv 0.59 5
rs6750047 0.851 0.080 2 38049406 intron variant A/G snv 0.61 4
rs910532454 0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06 4
rs147198552 0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06 3
rs267599211 0.882 0.080 2 218584683 missense variant C/T snv 3
rs700635 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs6431588 0.925 0.040 2 238185147 intron variant T/C;G snv 0.86 0.85 2
rs1156242341 1.000 0.040 2 222202072 missense variant T/C snv 7.0E-06 1
rs1231071385 1.000 0.040 2 175093177 frameshift variant -/G ins 1
rs202247795 1.000 0.040 2 211702102 missense variant C/T snv 1
rs267599192 1.000 0.040 2 211673250 missense variant G/A snv 1
rs267599193 1.000 0.040 2 211713583 missense variant C/T snv 1
rs374980122 1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05 1
rs535202189 1.000 0.040 2 211673256 missense variant C/T snv 6.8E-05 1
rs55671017 1.000 0.040 2 211705339 missense variant G/A;T snv 8.0E-06; 6.4E-04 1
rs6707820 1.000 0.040 2 105809256 intron variant C/T snv 0.25 1
rs776347334 1.000 0.040 2 211430974 missense variant C/T snv 1.2E-05 1
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs121913409 0.708 0.400 3 41224646 missense variant C/A;G;T snv 21