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: rs121908557
rs121908557
SCN4A ; LOC105371858
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057521721
rs1057521721
GRIA3
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256
CAMK2A
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554121875
rs1554121875
CAMK2A
7 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122123
rs1554122123
CAMK2A
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1554122129
rs1554122129
CAMK2A
6 0.882 0.040 5 150252032 missense variant T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs926027867
rs926027867
CAMK2A
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1048764460
rs1048764460
COG4
1 1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
4 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1057518966
rs1057518966
MUSK
4 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0