Disease: West Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370114048
rs370114048
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0037769
Disease:
West Syndrome 		0.010 GeneticVariation BEFREE Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. 26138355 2016