Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75466054
rs75466054
0.810 GeneticVariation BEFREE Here, using next generation sequencing, we identified compound heterozygous mutations, namely a large maternally inherited deletion, including exons 4, 5, and 6, and a paternally inherited missense variant (c.914T>C [p.Ile305Thr]) in <i>CHAT</i> in a Chinese patient with a severe phenotype of CMS-EA. 30914958

2019

dbSNP: rs75466054
rs75466054
0.810 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs75466054
rs75466054
0.810 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs75466054
rs75466054
C 0.810 CausalMutation CLINVAR

dbSNP: rs121912815
rs121912815
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912816
rs121912816
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912817
rs121912817
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912819
rs121912819
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912820
rs121912820
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912821
rs121912821
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912822
rs121912822
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912823
rs121912823
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141

2003

dbSNP: rs121912815
rs121912815
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912816
rs121912816
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912817
rs121912817
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912819
rs121912819
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912820
rs121912820
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912821
rs121912821
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912822
rs121912822
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912823
rs121912823
0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068

2001

dbSNP: rs121912815
rs121912815
G 0.800 CausalMutation CLINVAR

dbSNP: rs121912816
rs121912816
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912817
rs121912817
T 0.800 CausalMutation CLINVAR

dbSNP: rs121912819
rs121912819
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912820
rs121912820
C 0.800 CausalMutation CLINVAR