Have questions? Visit https://www.reddit.com/r/SNPedia

rs72549325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 1 possible trimethylaminuria based on low FMO3 activity
(T;T) 1 possible trimethylaminuria based on low FMO3 activity
ReferenceGRCh38 38.1/141
Chromosome1
Position171107795
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549325
ebirs72549325
HLIrs72549325
Exacrs72549325
Varsomers72549325
Maprs72549325
PheGenIrs72549325
hapmaprs72549325
1000 genomesrs72549325
hgdprs72549325
ensemblrs72549325
gopubmedrs72549325
geneviewrs72549325
scholarrs72549325
googlers72549325
pharmgkbrs72549325
gwascentralrs72549325
openSNPrs72549325
23andMers72549325
23andMe allrs72549325
SNP Nexus

SNPshotrs72549325
SNPdbers72549325
MSV3drs72549325
GWAS Ctlgrs72549325
Max Magnitude1
rs72549325, also known as Gly148Ter, is a SNP in the FMO3 gene. A single report links two Korean individuals, both heterozygous for this SNP, to low FMO3 activity based on their low conversion rates of caffeine to theobromine. This is presumed to be associated with trimethylaminuria.[PMID 10376762]
OMIM136132
Desc
Variant0006
Relatedalso
ClinVar
Risk rs72549325(A,T;A,T)
Alt rs72549325(A,T;A,T)
Reference rs72549325(G;G)
Significance Pathogenic
Disease FMO3 activity
Variation info
Gene FMO3
CLNDBN FMO3 activity, decreased
Reversed 0
HGVS NC_000001.10:g.171076936G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017703.28,