rs796053134, SCN2A

N. diseases: 5
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 0.827 0.080 2 165374737 missense variant T/C snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2016 2016
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2019 2019
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2016 2016
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2016 2016