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rs2228093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 3 Associated with alcohol-induced hypersensitivity reactions
Make rs2228093(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position38396005
GeneALDH1B1
is asnp
is mentioned by
dbSNPrs2228093
ebirs2228093
HLIrs2228093
Exacrs2228093
Varsomers2228093
Maprs2228093
PheGenIrs2228093
hapmaprs2228093
1000 genomesrs2228093
hgdprs2228093
ensemblrs2228093
gopubmedrs2228093
geneviewrs2228093
scholarrs2228093
googlers2228093
pharmgkbrs2228093
gwascentralrs2228093
openSNPrs2228093
23andMers2228093
23andMe allrs2228093
SNP Nexus

SNPshotrs2228093
SNPdbers2228093
MSV3drs2228093
GWAS Ctlgrs2228093
GMAF0.2222
Max Magnitude3
? (C;C) (C;T) (T;T) 28

[PMID 20205700] Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians


[PMID 20700531OA-icon.png] The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.


GET Evidence
ALDH1B1-A86V
aa_change Ala86Val
aa_change_short A86V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.122142
summary



ClinVar
Risk rs2228093(T;T)
Alt rs2228093(T;T)
Reference rs2228093(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ALDH1B1
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.38396002C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000123606.1,