Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins 6
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv 4
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
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