Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
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
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1805329 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 15
rs776223836 0.763 0.280 19 45364045 missense variant G/A snv 11
rs767551092
XPC
0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 10
rs778990691 0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 6
rs1402607735 0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06 2
rs104894132
XPA
0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04 2
rs104894133
XPA
1.000 0.160 9 97684977 stop gained G/A snv 2.4E-05 2
rs1200172747
XPA
0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05 2
rs149226993
XPA
0.925 0.160 9 97684965 stop gained G/A snv 4.0E-06 2
rs1554701103
XPA
0.925 0.160 9 97684929 frameshift variant -/T delins 2
rs769255883
XPA
1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 2
rs1019535182
XPA
1.000 0.160 9 97684921 splice donor variant A/G snv 1
rs104894131
XPA
1.000 0.160 9 97689600 missense variant C/A;T snv 4.0E-06; 4.0E-06 1
rs104894134
XPA
1.000 0.160 9 97689575 stop gained A/G;T snv 4.0E-06 1
rs1057519018
XPA
1.000 0.160 9 97684947 frameshift variant CT/- delins 4.0E-06 1
rs1240801740
XPA
1.000 0.160 9 97687191 stop gained CA/- delins 4.0E-06 7.0E-06 1
rs1253496792
XPA
1.000 0.160 9 97697291 start lost A/G snv 1
rs1326841833
XPA
1.000 0.160 9 97687118 frameshift variant -/T delins 4.0E-06 1
rs144725456
XPA
1.000 0.160 9 97675530 missense variant T/C snv 1.3E-04 7.7E-05 1
rs1554699296
XPA
1.000 0.160 9 97675528 frameshift variant -/A delins 1