Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559519107
rs1559519107
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
CUI: C1864233
Disease:
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		T 0.700 CausalMutation CLINVAR Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). 9758617 1998