Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins 6
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs587782991
PURA
0.882 0.080 5 140114991 inframe deletion TCT/- delins 6
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs587782999
PURA
0.882 0.080 5 140114446 missense variant G/A;C snv 6
rs587783001
PURA
0.882 0.080 5 140114777 missense variant G/C snv 6
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs587783000
PURA
0.925 0.080 5 140114444 inframe deletion TCG/- del 5
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv 4
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs796053439
TPP1
0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06 4
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del 4
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv 4
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3