Disease: Epileptic encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053174
rs796053174
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0543888
Disease:
Epileptic encephalopathy 		0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563 2016