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rs2266782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2266782(A;A)
Make rs2266782(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position171107825
GeneFMO3
is asnp
is mentioned by
dbSNPrs2266782
ebirs2266782
HLIrs2266782
Exacrs2266782
Varsomers2266782
Maprs2266782
PheGenIrs2266782
hapmaprs2266782
1000 genomesrs2266782
hgdprs2266782
ensemblrs2266782
gopubmedrs2266782
geneviewrs2266782
scholarrs2266782
googlers2266782
pharmgkbrs2266782
gwascentralrs2266782
openSNPrs2266782
23andMers2266782
23andMe allrs2266782
SNP Nexus

SNPshotrs2266782
SNPdbers2266782
MSV3drs2266782
GWAS Ctlgrs2266782
GMAF0.3531
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene FMO3
allele A
frequency 0.383
sift TOLERATED
HuRef 1103675259919
Disease Association Defects in FMO3 are the cause of trimethylaminuria (TMAuria) (MIM:602079); also known as fish-odor syndrome. TMAuria is an inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino-trimethylamine (TMA) derived from foodstuffs. Such individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine.



OMIM136132
Desc
Variant0015
Relatedalso


ClinVar
Risk rs2266782(A;A)
Alt rs2266782(A;A)
Reference rs2266782(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria, mild Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171076966G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017711.5, RCV000201276.1, RCV000201278.1,



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


[PMID 18180394OA-icon.png] Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans.


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


[PMID 20056567OA-icon.png] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.


[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-E158K
aa_change Glu158Lys
aa_change_short E158K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.428797
summary



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[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 26081749] Antioxidant-related gene polymorphisms associated with the cardio-ankle vascular index in young Russians