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rs72549326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1 likely to be an unaffected carrier for a trimethylaminuria allele
(T;T) 2 trimethylaminuria & possible related issues; see discussion
ReferenceGRCh38 38.1/141
Chromosome1
Position171107811
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549326
ebirs72549326
HLIrs72549326
Exacrs72549326
Varsomers72549326
Maprs72549326
PheGenIrs72549326
hapmaprs72549326
1000 genomesrs72549326
hgdprs72549326
ensemblrs72549326
gopubmedrs72549326
geneviewrs72549326
scholarrs72549326
googlers72549326
pharmgkbrs72549326
gwascentralrs72549326
openSNPrs72549326
23andMers72549326
23andMe allrs72549326
SNP Nexus

SNPshotrs72549326
SNPdbers72549326
MSV3drs72549326
GWAS Ctlgrs72549326
Max Magnitude2
rs72549326, also known as Pro153Leu, is a SNP in the FMO3 gene. Homozygous minor genotypes for this SNP have been reported to have trimethylaminuria.[PMID 8654418]
OMIM136132
Desc
Variant0004
Relatedalso
ClinVar
Risk rs72549326(T;T)
Alt rs72549326(T;T)
Reference rs72549326(C;C)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171076952C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017701.28,


[PMID 9398858] Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.


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


[PMID 11191884] Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome.