Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562159088
rs1562159088
WASF1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568658507
rs1568658507
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

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

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

dbSNP: rs1569017073
rs1569017073
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1569017143
rs1569017143
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: rs1569017174
rs1569017174
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

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

dbSNP: rs1569017257
rs1569017257
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

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

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

dbSNP: rs201497300
rs201497300
ATP7B
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs267608501
rs267608501
CDKL5
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: rs387906686
rs387906686
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs536000212
rs536000212
TRIT1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation 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: rs747824231
rs747824231
VARS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs759766243
rs759766243
WWOX
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR