Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del 7
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs6746030
SCN1A-AS1 ; SCN9A
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 16
rs3943809
SCN2A
0.925 0.080 2 165344371 intron variant A/G snv 0.20 2
rs273259
IFI44L
1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs6432860
SCN1A ; SCN1A-AS1
0.925 0.080 2 166041354 synonymous variant A/G;T snv 0.73; 4.0E-06 4
rs121918631
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166056450 stop gained A/G;T snv 3
rs13306038
PTGS2
1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 1
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs211014
GABRG2
0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 2
rs7587026
SCN1A ; SCN1A-AS1
0.925 0.080 2 166122240 intron variant C/A snv 0.26 2
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 11
rs556893466
SCN1A-AS1 ; LOC102724058 ; SCN1A
1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06 1
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs267606837
GABRG2
0.851 0.080 5 162097839 missense variant C/G snv 4
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs211037
GABRG2
0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 14
rs769234940
CHAT
0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 11