rs886037943, SLC1A2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
0.800 GeneticVariation UNIPROT De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
0.800 CausalMutation CLINVAR