Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs201497300
rs201497300
ATP7B
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation 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: 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: rs1064794262
rs1064794262
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1485894376
rs1485894376
CACNA2D2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs786204967
rs786204967
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 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: rs1057519542
rs1057519542
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		GGACC 0.700 CausalMutation CLINVAR

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

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
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: rs879253748
rs879253748
GABRA1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation 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: rs886041715
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 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: 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: 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: 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