Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs797044526
DYRK1A ; LOC105372797
0.925 21 37490393 missense variant C/T snv 7
rs1277383877
PIGT
0.925 20 45421428 missense variant G/T snv 7.0E-06 3
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs771882905
KAT14
1.000 20 18162673 missense variant G/A snv 2.0E-05 2.8E-05 2
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs764774411
GCDH
0.925 0.120 19 12896052 missense variant G/C snv 4.0E-06 3
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv 2
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins 4
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 10
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs113994094
POLG
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 6