rs387906683, SCN2A

N. diseases: 3
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, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
65 0.882 0.040 2 165297053 stop gained C/T snv 0.700 0
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.882 0.040 2 165297053 stop gained C/T snv 0.010 1 2004 2004
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.040 2 165297053 stop gained C/T snv 0.010 1.000 1 2009 2009