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: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs143657539
rs143657539
PPT1
2 1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs144900171
rs144900171
SYT1
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1565922388
rs1565922388
SYT1
5 0.925 12 79353599 missense variant T/A snv 0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
5 0.925 12 79353602 missense variant A/G snv 0.700 0
dbSNP: rs1565962725
rs1565962725
SYT1
5 0.925 12 79448953 missense variant C/A snv 0.700 0
dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
5 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs1131691712
rs1131691712
CACNA1A
1 19 13286952 frameshift variant -/A delins 4.2E-06 0.700 1.000 46 1988 2017
dbSNP: rs781139634
rs781139634
DNMT3A
2 2 25235768 stop gained G/A snv 7.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs1555869758
rs1555869758
KCNQ2
3 1.000 0.040 20 63438654 missense variant T/C snv 0.700 1.000 29 1980 2017
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
4 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
dbSNP: rs1382415023
rs1382415023
SON
3 1.000 21 33554945 frameshift variant GAAA/- delins 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
4 1.000 21 33554005 frameshift variant ACTC/- del 0.700 1.000 28 1988 2016
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.700 1.000 28 1991 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
dbSNP: rs1554776842
rs1554776842
STXBP1
1 9 127660080 frameshift variant C/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
STXBP1
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
STXBP1
2 9 127682485 frameshift variant G/- delins 0.700 1.000 27 1998 2016