Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781908532
rs781908532
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 26870663

2019
dbSNP: rs781908532
rs781908532
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. 29031613

2018
dbSNP: rs781908532
rs781908532
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		T 0.800 CausalMutation CLINVAR