Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909509
rs121909509
CHRND
0.800 GeneticVariation UNIPROT Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. 18398509

2008
dbSNP: rs121909509
rs121909509
CHRND
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. 12499478

2002
dbSNP: rs121909509
rs121909509
CHRND
0.800 GeneticVariation UNIPROT Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 11435464

2001
dbSNP: rs121909509
rs121909509
CHRND
A 0.800 CausalMutation CLINVAR