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rs72549321

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome1
Position171103806
GeneFMO3, MIR1295A
is asnp
is mentioned by
dbSNPrs72549321
ebirs72549321
HLIrs72549321
Exacrs72549321
Varsomers72549321
Maprs72549321
PheGenIrs72549321
hapmaprs72549321
1000 genomesrs72549321
hgdprs72549321
ensemblrs72549321
gopubmedrs72549321
geneviewrs72549321
scholarrs72549321
googlers72549321
pharmgkbrs72549321
gwascentralrs72549321
openSNPrs72549321
23andMers72549321
23andMe allrs72549321
SNP Nexus

SNPshotrs72549321
SNPdbers72549321
MSV3drs72549321
GWAS Ctlgrs72549321
Max Magnitude2
rs72549321, also known as Ala52Thr, is a SNP in the FMO3 gene. The homozygous minor genotype for this SNP has been reported in a single patient with trimethylaminuria.[PMID 10479479]
OMIM136132
Desc
Variant0008
Relatedalso
ClinVar
Risk rs72549321(A;A)
Alt rs72549321(A;A)
Reference rs72549321(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3 MIR1295A
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171072947G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017700.29,