Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309537
rs864309537
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs864309540
rs864309540
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs864309537
rs864309537
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs864309540
rs864309540
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs864309537
rs864309537
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs864309540
rs864309540
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs797044912
rs797044912
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. 28074849 2017
dbSNP: rs797044912
rs797044912
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs398122998
rs398122998
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		A 0.700 CausalMutation CLINVAR De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
dbSNP: rs398123000
rs398123000
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
dbSNP: rs1057518128
rs1057518128
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060503517
rs1060503517
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131691515
rs1131691515
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs146691368
rs146691368
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555437851
rs1555437851
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555439036
rs1555439036
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555439714
rs1555439714
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555439719
rs1555439719
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555440885
rs1555440885
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555442886
rs1555442886
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1555442889
rs1555442889
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs1567133726
rs1567133726
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567135138
rs1567135138
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567136357
rs1567136357
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567138270
rs1567138270
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C3809278
Disease:
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		AAGTCTGAA 0.700 CausalMutation CLINVAR