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rs8178990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs8178990(C;T)
Make rs8178990(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position49622125
GeneCHAT
is asnp
is mentioned by
dbSNPrs8178990
ebirs8178990
HLIrs8178990
Exacrs8178990
Varsomers8178990
Maprs8178990
PheGenIrs8178990
hapmaprs8178990
1000 genomesrs8178990
hgdprs8178990
ensemblrs8178990
gopubmedrs8178990
geneviewrs8178990
scholarrs8178990
googlers8178990
pharmgkbrs8178990
gwascentralrs8178990
openSNPrs8178990
23andMers8178990
23andMe allrs8178990
SNP Nexus

SNPshotrs8178990
SNPdbers8178990
MSV3drs8178990
GWAS Ctlgrs8178990
GMAF0.03673
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 21883924OA-icon.png] Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly

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


GET Evidence
CHAT-L243F
aa_change Leu243Phe
aa_change_short L243F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0454545
summary



ClinVar
Risk rs8178990(T;T)
Alt rs8178990(T;T)
Reference rs8178990(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene CHAT
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.50830171C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116699.2,