Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs5882
CETP
0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs75932628
LOC105375056 ; TREM2
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs4818
COMT ; MIR4761
0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 19
rs63750215
PSEN2
0.701 0.240 1 226885603 missense variant A/T snv 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs63751438
MAPT
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
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv 13
rs1231783932
APP
0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 11
rs398122403
SYNJ1
0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 11
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs63750522
PSEN1
0.827 0.120 14 73173644 missense variant G/A;C snv 8
rs10524523
TOMM40
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
rs121912433
SOD1
0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 7