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: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs587780586
rs587780586
SCN8A
4 0.882 0.160 12 51765675 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs786205866
rs786205866
EEF1A2
7 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 1.000 7 2009 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 1.000 5 2009 2019
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2012 2019
dbSNP: rs137853333
rs137853333
KCNMA1
2 0.925 0.080 10 77090433 missense variant T/C snv 7.0E-06 0.020 1.000 2 2009 2019
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.020 1.000 2 2009 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2013 2019
dbSNP: rs587777057
rs587777057
GNAO1
8 0.827 0.040 16 56336744 missense variant G/A snv 0.020 1.000 2 2017 2019
dbSNP: rs886039903
rs886039903
FGF12
6 0.807 0.200 3 192335434 missense variant C/T snv 0.020 1.000 2 2019 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2019 2019
dbSNP: rs10818488
rs10818488
C5-OT1
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs111908689
rs111908689 		1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11214136
rs11214136
BCO2
1 1.000 0.040 11 112211286 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs121918363
rs121918363
SRPX2
2 0.925 0.200 X 100667292 missense variant A/G snv 5.7E-04 4.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs121918782
rs121918782
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs1373040226
rs1373040226
LNPEP
1 1.000 0.040 5 97027769 frameshift variant -/G delins 0.010 1.000 1 2019 2019
dbSNP: rs1373411103
rs1373411103
SORBS1
1 1.000 0.040 10 95384282 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1394074
rs1394074
OLFML3
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs148173957
rs148173957
LOC105378976
2 1.000 0.040 5 56078195 intron variant TT/- del 8.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs17611
rs17611
C5
14 0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36 0.010 1.000 1 2019 2019
dbSNP: rs199681253
rs199681253
KCNMA1 ; KCNMA1-AS1
1 1.000 0.040 10 76949279 missense variant G/A snv 0.010 1.000 1 2019 2019