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: rs114444506
rs114444506
ANO3 ; LOC105376598 ; ANO3-AS1
1 1.000 0.080 11 26325284 intron variant T/C snv 1.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1318653
rs1318653
MIR29B2CHG
1 1.000 0.080 1 207841577 intron variant T/C snv 0.19 0.710 1.000 1 2014 2014
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: rs267606837
rs267606837
GABRG2
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs2724384
rs2724384
CD46
1 1.000 0.080 1 207756858 intron variant G/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs273259
rs273259
IFI44L
1 1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 0.710 1.000 1 2014 2014
dbSNP: rs3769955
rs3769955
SCN2A
1 1.000 0.080 2 165378122 intron variant C/T snv 0.42 0.700 1.000 1 2014 2014
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: rs7587026
rs7587026
SCN1A ; SCN1A-AS1
2 0.925 0.080 2 166122240 intron variant C/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs211037
rs211037
GABRG2
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.050 0.800 5 2012 2018
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: 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: rs61738009
rs61738009
CPA6 ; LOC102724708
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.030 1.000 3 2010 2014
dbSNP: rs16850331
rs16850331
SCN2A
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3943809
rs3943809
SCN2A
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs211014
rs211014
GABRG2
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
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: 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: rs1805057
rs1805057
GABBR1
2 0.925 0.080 6 29613344 missense variant C/T snv 1.1E-03 1.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2004 2004
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