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rs72549334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1 likely to be an unaffected carrier of a trimethylaminuria allele
(T;T) 2 trimethylaminuria & possible related issues; see discussion
ReferenceGRCh38 38.1/141
Chromosome1
Position171117317
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549334
ebirs72549334
HLIrs72549334
Exacrs72549334
Varsomers72549334
Maprs72549334
PheGenIrs72549334
hapmaprs72549334
1000 genomesrs72549334
hgdprs72549334
ensemblrs72549334
gopubmedrs72549334
geneviewrs72549334
scholarrs72549334
googlers72549334
pharmgkbrs72549334
gwascentralrs72549334
openSNPrs72549334
23andMers72549334
23andMe allrs72549334
SNP Nexus

SNPshotrs72549334
SNPdbers72549334
MSV3drs72549334
GWAS Ctlgrs72549334
Max Magnitude2
rs72549334, also known as Arg492Trp, is a SNP in the FMO3 gene. In the homozygous minor genotype, it has been reported to lead to trimethylaminuria.[PMID 10338091]
OMIM136132
Desc
Variant0005
Relatedalso
ClinVar
Risk rs72549334(T;T)
Alt rs72549334(T;T)
Reference rs72549334(C;C)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171086457C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017702.29,