Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368731455 1.000 0.040 1 6281212 missense variant C/T snv 2.0E-05 1
rs6667575 1.000 0.040 1 23533029 upstream gene variant G/A snv 0.22 1
rs752855469
MTR
1.000 0.040 1 236803460 missense variant A/G snv 4.0E-06 1
rs758821654 1.000 0.040 1 6339437 synonymous variant G/A snv 4.0E-06 7.0E-06 1
rs765693356 1.000 0.040 1 6339527 synonymous variant G/A snv 1.2E-05 1
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs1057519921 0.763 0.240 2 177234231 missense variant T/C snv 10
rs1057519920 0.790 0.160 2 177234232 missense variant C/A;G;T snv 7
rs1057519922 0.790 0.200 2 177234082 missense variant C/G;T snv 7
rs1057519923 0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519924 0.807 0.200 2 177234080 missense variant C/A snv 6
rs4663402 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 4
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
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs121913275 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 26
rs1057519925 0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs1057519932 0.683 0.320 3 179234298 missense variant T/G snv 22