Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs397514679
SYN1
0.790 0.200 X 47574321 stop gained G/A snv 9
rs3812718
SCN1A-AS1 ; SCN1A
0.776 0.240 2 166053034 splice region variant C/T snv 0.48 8
rs3755724
TIMP4 ; SYN2
0.790 0.360 3 12159406 intron variant C/T snv 0.31 8
rs17183814
SCN2A
0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 7
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv 7
rs672601378
GRIN2B ; LOC105369668
0.882 0.040 12 13615149 missense variant C/T snv 4
rs121917993
SCN1A-AS1 ; SCN1A ; LOC102724058
0.851 0.040 2 165994212 missense variant G/A snv 4
rs797044873
SNAP25 ; SNAP25-AS1
0.925 0.040 20 10284751 missense variant G/T snv 4
rs672601376
LOC105369668 ; GRIN2B
0.925 0.040 12 13608760 missense variant A/C snv 3
rs730882225
NID1
0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 3
rs587784440
SPTAN1
0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 3
rs346291 1.000 0.040 6 79855119 non coding transcript exon variant C/T snv 0.43 1
rs9341799 1.000 0.040 6 79854802 non coding transcript exon variant T/C snv 0.36 1
rs2601828
ADCY9
1.000 0.040 16 4053870 intron variant T/C snv 0.77 1
rs1057519541
CDKL5
1.000 0.040 X 18628515 stop gained C/T snv 1
rs1318322
LOC105377977
1.000 0.040 6 121013624 intergenic variant A/G snv 0.19 1
rs1057519543
MECP2
1.000 0.040 X 154030913 missense variant C/A snv 1
rs12987787
SCN1A-AS1 ; LOC102724058 ; SCN1A
1.000 0.040 2 166001881 intron variant T/C snv 1
rs2212656
SCN1A-AS1 ; SCN1A
1.000 0.040 2 166144333 intron variant C/A;T snv 1
rs1057519525
SCN2A
1.000 0.040 2 165308760 missense variant T/G snv 1
rs1991545
SLC33A1
1.000 0.040 3 155834522 intron variant G/A snv 0.21 1