Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs879253748
rs879253748
GABRA1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs796053367
rs796053367
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs796053366
rs796053366
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs796053335
rs796053335
SPTAN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		GGCATGC 0.700 CausalMutation CLINVAR

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

dbSNP: rs794727444
rs794727444
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

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

dbSNP: rs786204967
rs786204967
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs786200962
rs786200962
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs779453109
rs779453109
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs775162839
rs775162839
UGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs763777257
rs763777257
VARS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs747824231
rs747824231
VARS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387906686
rs387906686
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs375659415
rs375659415
USP19
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267608501
rs267608501
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569219844
rs1569219844
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1569017337
rs1569017337
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1569017205
rs1569017205
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR