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rs72549323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 possible trimethylaminuria; see discussion
(C;G) 1 this may be a carrier genotype for trimethylaminuria
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position171103850
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549323
dbSNP (classic)rs72549323
ClinGenrs72549323
ebirs72549323
HLIrs72549323
Exacrs72549323
Gnomadrs72549323
Varsomers72549323
LitVarrs72549323
Maprs72549323
PheGenIrs72549323
Biobankrs72549323
1000 genomesrs72549323
hgdprs72549323
ensemblrs72549323
geneviewrs72549323
scholarrs72549323
googlers72549323
pharmgkbrs72549323
gwascentralrs72549323
openSNPrs72549323
23andMers72549323
SNPshotrs72549323
SNPdbers72549323
MSV3drs72549323
GWAS Ctlgrs72549323
Max Magnitude2

rs72549323, also known as Met66Ile, is a SNP in the FMO3 gene. It has been linked in (only) one report to trimethylaminuria.[PMID 10338091]

OMIM136132
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs72549323(C;C) rs72549323(T;T)
Alt Rs72549323(C;C) rs72549323(T;T)
Reference Rs72549323(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171072991G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017699.30,