Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs587777893 0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61753219 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1276519904 0.645 0.520 1 226071445 missense variant A/G snv 63
rs1010184002 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1554700718 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs779027563 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs796052505 0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs796052243 0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs61750420 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1057519389 0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs867410737 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs780533096 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs267606826 0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs587784347 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1556425596 0.752 0.240 21 45989967 intron variant C/T snv 37
rs1555038111 0.701 0.480 11 118478153 stop gained T/G snv 37
rs878853250 0.752 0.360 12 51699663 stop gained T/A;C snv 37
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
rs1060505041 0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1559931177 0.827 0.120 3 49047207 stop gained G/A snv 34
rs1557781252 0.742 0.320 1 153816414 stop gained G/A snv 33
rs1034395178 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs80338945 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32