Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs751455326
GRIN2A
1.000 16 9768993 missense variant G/A;T snv 4.0E-06 2