rs121912815, CHAT

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial infantile myasthenia
CUI: C0393929
Disease: Familial infantile myasthenia
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
Familial infantile myasthenia
CUI: C0393929
Disease: Familial infantile myasthenia
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
Familial infantile myasthenia
CUI: C0393929
Disease: Familial infantile myasthenia
0.800 CausalMutation CLINVAR