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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs121917748
rs121917748
SCN2A
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918631
rs121918631
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
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: rs1398830127
rs1398830127
GABBR1
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs142740233
rs142740233
SLC12A5
3 0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs146572471
rs146572471
SLC30A3
1 1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs267606837
rs267606837
GABRG2
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs431905504
rs431905504
SLC6A3
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs556893466
rs556893466
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs6432860
rs6432860
SCN1A ; SCN1A-AS1
4 0.925 0.080 2 166041354 synonymous variant A/G;T snv 0.73; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs689470
rs689470
PTGS2
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs763256222
rs763256222
SCN9A ; SCN1A-AS1
2 0.925 0.080 2 166288466 missense variant G/A snv 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963
CACNA1A
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518853
rs1057518853
RPS6KA3
3 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
dbSNP: rs1553553485
rs1553553485
SCN1A ; SCN1A-AS1
1 1.000 0.080 2 166058626 stop gained G/C snv 0.700 0
dbSNP: rs1555228665
rs1555228665
SCN8A
4 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0