Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568457080
rs1568457080
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 10371528 1999
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. 9488686 1998
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1064794261
rs1064794261
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909324
rs121909324
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1272886269
rs1272886269
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555743942
rs1555743942
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555755909
rs1555755909
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555756130
rs1555756130
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555756461
rs1555756461
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs1555756737
rs1555756737
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555757432
rs1555757432
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555757523
rs1555757523
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555759066
rs1555759066
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555762855
rs1555762855
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555762908
rs1555762908
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1568470104
rs1568470104
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1568528144
rs1568528144
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568528298
rs1568528298
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs779221807
rs779221807
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794727411
rs794727411
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 GeneticVariation CLINVAR