Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519529
rs1057519529
SCN1A ; SCN1A-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs796053083
rs796053083
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR