rs72549331

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

171114339

Gene

FMO3

is a	snp
is	mentioned by
dbSNP	rs72549331
dbSNP (classic)	rs72549331
ClinGen	rs72549331
ebi	rs72549331
HLI	rs72549331
Exac	rs72549331
Gnomad	rs72549331
Varsome	rs72549331
LitVar	rs72549331
Map	rs72549331
PheGenI	rs72549331
Biobank	rs72549331
1000 genomes	rs72549331
hgdp	rs72549331
ensembl	rs72549331
geneview	rs72549331
scholar	rs72549331
google	rs72549331
pharmgkb	rs72549331
gwascentral	rs72549331
openSNP	rs72549331
23andMe	rs72549331
SNPshot	rs72549331
SNPdbe	rs72549331
MSV3d	rs72549331
GWAS Ctlg	rs72549331

GMAF

0.0004591

Max Magnitude

2

rs72549331, also known as Arg387Leu, is a SNP in the FMO3 gene. The homozygous minor genotype has been reported in a patient with trimethylaminuria.[PMID 10479479]

OMIM	136132
Desc
Variant	0007
Related	also

ClinVar
Risk	rs72549331(A;A) Rs72549331(T;T)
Alt	rs72549331(A;A) Rs72549331(T;T)
Reference	Rs72549331(G;G)
Significance	Pathogenic
Disease	not provided Trimethylaminuria
Variation	info
Gene	FMO3
CLNDBN	not provided Trimethylaminuria
Reversed	0
HGVS	NC_000001.10:g.171083479G>A; NC_000001.10:g.171083479G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000489148.1, RCV000017704.30,