Disease: Epileptic encephalopathy
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del 7
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del 5
rs1135401733
HNRNPU
1.000 0.040 1 244856757 stop gained G/A snv 3
rs1562159088
WASF1
1.000 0.040 6 110100644 stop gained G/A snv 2