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: rs1555911098
rs1555911098
EP300
1 22 41168719 splice acceptor variant A/G snv 0.700 1.000 19 1963 2016
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
3 1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 0.700 1.000 6 1966 2013
dbSNP: rs869025340
rs869025340
BRAF
5 0.925 0.160 7 140777032 missense variant A/C;G;T snv 0.700 1.000 8 1968 2013
dbSNP: rs1555243099
rs1555243099
MED13L
2 1.000 12 115982526 missense variant A/T snv 0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853
MED13L
2 1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 0.700 1.000 16 1971 2018
dbSNP: rs1555801872
rs1555801872
RYR1
2 19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 0.700 1.000 12 1973 2013
dbSNP: rs1555605688
rs1555605688
CLTC
2 17 59668852 missense variant C/T snv 0.700 1.000 23 1976 2017
dbSNP: rs1554059320
rs1554059320
RICTOR
1 5 38946521 frameshift variant T/- delins 0.700 1.000 11 1976 2015
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: rs767889331
rs767889331
LAMA1
2 18 7012105 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06 0.700 1.000 14 1981 2016
dbSNP: rs1555706706
rs1555706706
MAN2B1
1 19 12649968 frameshift variant C/- delins 0.700 1.000 6 1981 2015
dbSNP: rs80338677
rs80338677
MAN2B1
4 0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 0.700 1.000 6 1981 2015