Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs375752214 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
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
rs4646 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 16
rs148881970 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs555145190 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs267606959 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 19
rs80265967 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 16
rs63751287 0.742 0.120 14 73192792 missense variant A/G;T snv 13
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs17125721 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs1231783932
APP
0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 11
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs63751438 0.776 0.120 17 46010388 missense variant C/T snv 16
rs2072446 0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 11
rs727502818 0.790 0.160 11 17772053 missense variant G/A snv 26
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
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
rs363050 0.790 0.240 20 10253609 intron variant G/A snv 0.57 8
rs63750847
APP
0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04 8
rs12273363 0.807 0.120 11 27723312 intron variant T/C snv 0.16 11