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rs2266780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2266780(A;G)
Make rs2266780(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position171114102
GeneFMO3
is asnp
is mentioned by
dbSNPrs2266780
ebirs2266780
HLIrs2266780
Exacrs2266780
Varsomers2266780
Maprs2266780
PheGenIrs2266780
hapmaprs2266780
1000 genomesrs2266780
hgdprs2266780
ensemblrs2266780
gopubmedrs2266780
geneviewrs2266780
scholarrs2266780
googlers2266780
pharmgkbrs2266780
gwascentralrs2266780
openSNPrs2266780
23andMers2266780
23andMe allrs2266780
SNP Nexus

SNPshotrs2266780
SNPdbers2266780
MSV3drs2266780
GWAS Ctlgrs2266780
GMAF0.1299
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM136132
Desc
Variant0015
Relatedalso


ClinVar
Risk rs2266780(G;G)
Alt rs2266780(G;G)
Reference rs2266780(A;A)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria, mild Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171083242A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017711.5, RCV000201276.1,



[PMID 15858076] Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.


[PMID 18565990OA-icon.png] Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.


[PMID 9536088] Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.


[PMID 10485731] Mild trimethylaminuria caused by common variants in FMO3 gene.


GET Evidence
FMO3-E308G
aa_change Glu308Gly
aa_change_short E308G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.1372
summary



[PMID 24165757] The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation


[PMID 24173915] Effects of single nucleotide polymorphisms of FMO3 and FMO6 genes on pharmacokinetic characteristics of sulindac sulfide in premature labor