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rs72549332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 trimethylaminuria & possible related issues; see discussion
(A;G) 1 likely to be an unaffected carrier of a trimethylaminuria allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position171117145
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549332
ebirs72549332
HLIrs72549332
Exacrs72549332
Varsomers72549332
Maprs72549332
PheGenIrs72549332
hapmaprs72549332
1000 genomesrs72549332
hgdprs72549332
ensemblrs72549332
gopubmedrs72549332
geneviewrs72549332
scholarrs72549332
googlers72549332
pharmgkbrs72549332
gwascentralrs72549332
openSNPrs72549332
23andMers72549332
23andMe allrs72549332
SNP Nexus

SNPshotrs72549332
SNPdbers72549332
MSV3drs72549332
GWAS Ctlgrs72549332
Max Magnitude2
rs72549332, also known as Met434Ile, is a SNP in the FMO3 gene. In homozygous minor genotypes, it is reported to result in trimethylaminuria.[PMID 11191884]
OMIM136132
Desc
Variant0011
Relatedalso
ClinVar
Risk rs72549332(A;A)
Alt rs72549332(A;A)
Reference rs72549332(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171086285G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017707.28,