rs886040861, GRIN2D

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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
4 0.925 0.040 19 48419722 missense variant G/A snv 0.800 1.000 1 2016 2016
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.040 19 48419722 missense variant G/A snv 0.010 1.000 1 2016 2016