Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs786204967
CDKL5
1.000 0.040 X 18604169 frameshift variant AG/- delins 2