rs72549332

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

171117145

Gene	FMO3, LOC105371611

is a	snp
is	mentioned by
dbSNP	rs72549332
dbSNP (classic)	rs72549332
ClinGen	rs72549332
ebi	rs72549332
HLI	rs72549332
Exac	rs72549332
Gnomad	rs72549332
Varsome	rs72549332
LitVar	rs72549332
Map	rs72549332
PheGenI	rs72549332
Biobank	rs72549332
1000 genomes	rs72549332
hgdp	rs72549332
ensembl	rs72549332
geneview	rs72549332
scholar	rs72549332
google	rs72549332
pharmgkb	rs72549332
gwascentral	rs72549332
openSNP	rs72549332
23andMe	rs72549332
SNPshot	rs72549332
SNPdbe	rs72549332
MSV3d	rs72549332
GWAS Ctlg	rs72549332

Max Magnitude

2

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]

OMIM	136132
Desc
Variant	0011
Related	also

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 UniProtKB (protein)
CLNACC	RCV000017707.29,