rs72549330

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

171114119

Gene

FMO3

is a	snp
is	mentioned by
dbSNP	rs72549330
dbSNP (classic)	rs72549330
ClinGen	rs72549330
ebi	rs72549330
HLI	rs72549330
Exac	rs72549330
Gnomad	rs72549330
Varsome	rs72549330
LitVar	rs72549330
Map	rs72549330
PheGenI	rs72549330
Biobank	rs72549330
1000 genomes	rs72549330
hgdp	rs72549330
ensembl	rs72549330
geneview	rs72549330
scholar	rs72549330
google	rs72549330
pharmgkb	rs72549330
gwascentral	rs72549330
openSNP	rs72549330
23andMe	rs72549330
SNPshot	rs72549330
SNPdbe	rs72549330
MSV3d	rs72549330
GWAS Ctlg	rs72549330

Max Magnitude

2

rs72549330, also known as Glu314Ter, is a SNP in the FMO3 gene. It has been reported in a single patient with trimethylaminuria.[PMID 10479479]

OMIM	136132
Desc
Variant	0009
Related	also

ClinVar
Risk	rs72549330(A;A) Rs72549330(T;T)
Alt	rs72549330(A;A) Rs72549330(T;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	RCV000017705.30,