Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794262
rs1064794262
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519550
rs1057519550
GABRB3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519549
rs1057519549
GABRB3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519548
rs1057519548
HCN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519547
rs1057519547
HCN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519545
rs1057519545
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519540
rs1057519540
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519535
rs1057519535
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519528
rs1057519528
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519527
rs1057519527
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519526
rs1057519526
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519524
rs1057519524
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519000
rs1057519000
SLC35A2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518985
rs1057518985
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518928
rs1057518928
SOX5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518816
rs1057518816
FOLR1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518795
rs1057518795
WWOX
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518759
rs1057518759
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		GGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516094
rs1057516094
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053228
rs796053228
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.720 CausalMutation CLINVAR

dbSNP: rs879255709
rs879255709
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs879253767
rs879253767
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR