Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553579225
rs1553579225
SCN2A
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		T 0.700 CausalMutation CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016