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rs72549330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 1 likely to be an unaffected carrier of a trimethylaminuria allele
(T;T) 2 trimethylaminuria & related issues; see discussion
ReferenceGRCh38 38.1/141
Chromosome1
Position171114119
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549330
ebirs72549330
HLIrs72549330
Exacrs72549330
Varsomers72549330
Maprs72549330
PheGenIrs72549330
hapmaprs72549330
1000 genomesrs72549330
hgdprs72549330
ensemblrs72549330
gopubmedrs72549330
geneviewrs72549330
scholarrs72549330
googlers72549330
pharmgkbrs72549330
gwascentralrs72549330
openSNPrs72549330
23andMers72549330
23andMe allrs72549330
SNP Nexus

SNPshotrs72549330
SNPdbers72549330
MSV3drs72549330
GWAS Ctlgrs72549330
Max Magnitude2
rs72549330, also known as Glu314Ter, is a SNP in the FMO3 gene. It has been reported in a single patient with trimethylaminuria.[PMID 10479479]
OMIM136132
Desc
Variant0009
Relatedalso
ClinVar
Risk rs72549330(A,T;A,T)
Alt rs72549330(A,T;A,T)
Reference rs72549330(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171083259G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017705.29,