Disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852811
rs137852811
Entrez Id: 1140
Gene Symbol: CHRNB1
CHRNB1
CUI: C4225374
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. 27375219 2016
dbSNP: rs137852811
rs137852811
Entrez Id: 1140
Gene Symbol: CHRNB1
CHRNB1
CUI: C4225374
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 2A, 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: rs137852811
rs137852811
Entrez Id: 1140
Gene Symbol: CHRNB1
CHRNB1
CUI: C4225374
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. 8651643 1996
dbSNP: rs137852811
rs137852811
Entrez Id: 1140
Gene Symbol: CHRNB1
CHRNB1
CUI: C4225374
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		A 0.800 CausalMutation CLINVAR