rs781204054, SCN2A

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, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.925 0.040 2 165312036 missense variant T/G snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.925 0.040 2 165312036 missense variant T/G snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015