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: 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: 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: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2020 2020
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: 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: rs770771659
rs770771659
SCN9A ; SCN1A-AS1
2 0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1553553485
rs1553553485
SCN1A ; SCN1A-AS1
1 1.000 0.080 2 166058626 stop gained G/C 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
dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
2 1.000 0.080 2 166036051 frameshift variant TT/- delins 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
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: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs210987
rs210987
GABRG2
2 0.925 0.080 5 162108749 intron variant C/T snv 0.54 0.010 1.000 1 2016 2016
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: rs267606837
rs267606837
GABRG2
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
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: 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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2018 2018
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: rs755604487
rs755604487
PHIP
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
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: 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: rs1564365418
rs1564365418
GRIN1
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs201439531
rs201439531
CHAT
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0