rs397518447, GRIN2A

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
38 0.925 0.040 16 9829585 missense variant G/T snv 0.800 1.000 13 2010 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.040 16 9829585 missense variant G/T snv 0.010 1.000 1 2019 2019