Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852808
rs137852808
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. 16685696 2006
dbSNP: rs137852808
rs137852808
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 9158151 1997
dbSNP: rs137852808
rs137852808
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. 9221765 1997
dbSNP: rs137852808
rs137852808
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 8872460 1996
dbSNP: rs137852808
rs137852808
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 7619526 1995
dbSNP: rs137852808
rs137852808
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		C 0.800 CausalMutation CLINVAR