Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
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
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs57095329
MIR3142HG
0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 25
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs74315408
PRNP
0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 16
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 14
rs63750590
PSEN1
0.790 0.120 14 73186860 missense variant A/G snv 10
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs63750599
PSEN1
0.827 0.160 14 73170963 missense variant T/C snv 7
rs727502811
TOR1A
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv 5
rs63751210
PSEN1
0.882 0.080 14 73186878 missense variant C/T snv 5
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 4
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 4
rs1057518011
TMEM240
1 1535766 missense variant C/T snv 4
rs267607134
TOR1A
0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 4