CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10082479
rs10082479
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0028043
Disease:
Nicotine Dependence 		0.010 GeneticVariation BEFREE Haplotype-based association analysis revealed that haplotypes G-G-A-C, formed by rs1880676-rs3810950-rs10082479-rs8178990 (P = 0.005-0.0178), and G-G-T-C-G-C, formed by rs1880676-rs3810950-rs10082479-rs8178990-rs3793790-rs12266458 (P = 0.00247-0.00468), displayed significant association with all three ND measures in the AA sample, as did haplotype T-C-G-A-T, formed by rs12266458-rs11101191-rs8178991-rs4838544-rs4838547 (P = 0.00741-0.0103), in the EA sample. 20383528 2010
dbSNP: rs1057517665
rs1057517665
Entrez Id: 1103;6572
Gene Symbol: CHAT;SLC18A3
CHAT;SLC18A3
CUI: C4310654
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057517665
rs1057517665
Entrez Id: 1103;6572
Gene Symbol: CHAT;SLC18A3
CHAT;SLC18A3
CUI: C4310654
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057517666
rs1057517666
Entrez Id: 1103;6572
Gene Symbol: CHAT;SLC18A3
CHAT;SLC18A3
CUI: C4310654
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057517666
rs1057517666
Entrez Id: 1103;6572
Gene Symbol: CHAT;SLC18A3
CHAT;SLC18A3
CUI: C4310654
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912815
rs121912815
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
dbSNP: rs121912815
rs121912815
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
dbSNP: rs121912815
rs121912815
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121912816
rs121912816
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912816
rs121912816
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
dbSNP: rs121912816
rs121912816
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
dbSNP: rs121912817
rs121912817
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912817
rs121912817
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
dbSNP: rs121912817
rs121912817
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
dbSNP: rs121912818
rs121912818
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.700 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
dbSNP: rs121912818
rs121912818
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.700 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
dbSNP: rs121912819
rs121912819
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
dbSNP: rs121912819
rs121912819
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
dbSNP: rs121912819
rs121912819
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912819
rs121912819
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.010 GeneticVariation BEFREE Arg-442 is mutated spontaneously (R442H) in congenital myasthenic syndrome, rendering ChAT inactive and causing neuromuscular failure. 15381704 2004
dbSNP: rs121912820
rs121912820
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
dbSNP: rs121912820
rs121912820
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912820
rs121912820
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
dbSNP: rs121912821
rs121912821
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912821
rs121912821
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C0393929
Disease:
Familial infantile myasthenia 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003