Disease: Myasthenic Syndromes, Congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs890972469
rs890972469
Entrez Id: 1144
Gene Symbol: CHRND
CHRND
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.010 GeneticVariation BEFREE In contrast, the corresponding amino acid substitution in the cytoplasmic loop of the AChR epsilon (CHRNE E376K) as well as a recently reported CMS mutation affecting this domain (CHRNE N436del) had no impact on cluster formation. 16916845 2006