Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1178773058
rs1178773058
AFG3L2
1 18 12367329 missense variant C/G;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs201817335
rs201817335
APP
1 21 26051139 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs63750050
rs63750050
PSEN1
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750599
rs63750599
PSEN1
7 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs63750634
rs63750634
PSEN1
3 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs63751210
rs63751210
PSEN1
5 0.882 0.080 14 73186878 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.710 1.000 1 2018 2018
dbSNP: rs760743322
rs760743322
APP
4 1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs770684782
rs770684782
SETX
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs773970701
rs773970701
AAAS
1 12 53309229 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1553948516
rs1553948516
SCARB2
3 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs1569149539
rs1569149539
TCF20
3 0.925 0.160 22 42212712 stop gained G/C snv 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs757199733
rs757199733
TTN
2 2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587776703
rs587776703
SCN8A
4 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0