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rs4838544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs4838544(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position49648606
GeneCHAT
is asnp
is mentioned by
dbSNPrs4838544
ebirs4838544
HLIrs4838544
Exacrs4838544
Varsomers4838544
Maprs4838544
PheGenIrs4838544
hapmaprs4838544
1000 genomesrs4838544
hgdprs4838544
ensemblrs4838544
gopubmedrs4838544
geneviewrs4838544
scholarrs4838544
googlers4838544
pharmgkbrs4838544
gwascentralrs4838544
openSNPrs4838544
23andMers4838544
23andMe allrs4838544
SNP Nexus

SNPshotrs4838544
SNPdbers4838544
MSV3drs4838544
GWAS Ctlgrs4838544
GMAF0.03214
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CHAT
allele A
frequency 1
sift TOLERATED
HuRef 1103649932060
Disease Association 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.



Neighborrs28930070
Distance60
Neighborrs28929481
Distance963

[PMID 20383528] Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.


GET Evidence
CHAT-V461M
aa_change Val461Met
aa_change_short V461M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.960866
summary



ClinVar
Risk rs4838544(A;A)
Alt rs4838544(A;A)
Reference rs4838544(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CHAT
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.50856652G>A
CLNSRC
CLNACC RCV000180671.1,