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
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
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
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
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
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
rs1057518011
TMEM240
1 1535766 missense variant C/T snv 4
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 4
rs1553948516
SCARB2
0.925 0.120 4 76181009 frameshift variant -/G delins 3
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs63750634
PSEN1
0.925 0.120 14 73192843 missense variant T/G snv 3
rs770684782
SETX
9 132288268 stop gained G/A snv 4.0E-06 3
rs1178773058
AFG3L2
18 12367329 missense variant C/G;T snv 8.0E-06; 1.2E-05 1
rs201817335
APP
21 26051139 missense variant C/T snv 4.0E-06 1
rs773970701
AAAS
12 53309229 missense variant C/A;T snv 1
rs757199733
TTN
2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 2
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 4
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15