rs796053124, SCN2A

N. diseases: 4
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 0.080 2 165354232 missense variant G/T snv 0.800 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010
Episodic Ataxia
CUI: C1720189
Disease: Episodic Ataxia
9 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010