{{Rsnum
|rsid=4838544
|Gene=CHAT
|Chromosome=10
|position=50856652
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.03214
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 66.0 | 29.9 | 4.1
| ASW | 89.5 | 8.8 | 1.8
| CHB | 100.0 | 0.0 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 78.2 | 20.9 | 0.9
| MEX | 98.3 | 1.7 | 0.0
| MKK | 76.9 | 21.8 | 1.3
| TSI | 99.0 | 1.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=4838544
|allele=A
|frequency=1
|uid=1103649932060
|type=homozygous_SNP
|hugo=CHAT
|ensembl gene=ENSG00000070748
|ensembl transcript=ENST00000351556
|sift=TOLERATED
|disease=Defects in CHAT are the cause of familial infantile myasthenia gravis 2 (FIMG2) (MIM:254210, 254200); also known as CMS-EA. FIMG2 patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. Inheritance is autosomal recessive.
}}

{{ neighbor
| rsid = 28930070
| distance = 60
}}
{{ neighbor
| rsid = 28929481
| distance = 963
}}

{{PMID|20383528}} Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.

{{GET Evidence
|gene=CHAT
|aa_change=Val461Met
|aa_change_short=V461M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4838544
|overall_frequency_n=10337
|overall_frequency_d=10758
|overall_frequency=0.960866
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=107
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}