Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 43
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs727502818 0.790 0.160 11 17772053 missense variant G/A snv 26
rs57095329 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 25
rs6721961 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 24
rs1555939456 0.851 0.200 X 20187956 missense variant T/C snv 21
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs63750215 0.701 0.240 1 226885603 missense variant A/T snv 19
rs1555377415 0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555454508 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs63751438 0.776 0.120 17 46010388 missense variant C/T snv 16
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs63751287 0.742 0.120 14 73192792 missense variant A/G;T snv 13
rs12273363 0.807 0.120 11 27723312 intron variant T/C snv 0.16 11
rs769449 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 11
rs17070145 0.790 0.120 5 168418786 intron variant C/T snv 0.43 10
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs3764650 0.790 0.200 19 1046521 intron variant T/G snv 0.14 9
rs17518584 0.827 0.160 3 85555773 intron variant C/T snv 0.50 8
rs363050 0.790 0.240 20 10253609 intron variant G/A snv 0.57 8
rs63750522 0.827 0.120 14 73173644 missense variant G/A;C snv 8
rs10524523 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 7