Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569017174
rs1569017174
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1569017148
rs1569017148
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569017143
rs1569017143
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1569017123
rs1569017123
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1569017045
rs1569017045
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569017015
rs1569017015
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1562159088
rs1562159088
WASF1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs121909323
rs121909323
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs118192211
rs118192211
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1179351306
rs1179351306
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1135401734
rs1135401734
HNRNPU ; SNORA100
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: rs1135401733
rs1135401733
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1135401732
rs1135401732
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1057519542
rs1057519542
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		GGACC 0.700 CausalMutation CLINVAR

dbSNP: rs1057519539
rs1057519539
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519538
rs1057519538
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519537
rs1057519537
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519536
rs1057519536
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519529
rs1057519529
SCN1A ; SCN1A-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519452
rs1057519452
USP19
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516099
rs1057516099
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR