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rs1736557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.1 normal?
(A;G) 0 unlikely to be associated with trimethylaminuria unless as a carrier (if that)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position171110939
GeneFMO3
is asnp
is mentioned by
dbSNPrs1736557
ebirs1736557
HLIrs1736557
Exacrs1736557
Varsomers1736557
Maprs1736557
PheGenIrs1736557
hapmaprs1736557
1000 genomesrs1736557
hgdprs1736557
ensemblrs1736557
gopubmedrs1736557
geneviewrs1736557
scholarrs1736557
googlers1736557
pharmgkbrs1736557
gwascentralrs1736557
openSNPrs1736557
23andMers1736557
23andMe allrs1736557
SNP Nexus

SNPshotrs1736557
SNPdbers1736557
MSV3drs1736557
GWAS Ctlgrs1736557
Merged fromRs17858963
GMAF0.09412
Max Magnitude1.1
rs1736557, also known as Val257Met, is a SNP in the FMO3 gene. It has been linked to trimethylaminuria; see variant .0002, OMIM 136132.
? (A;A) (A;G) (G;G) 28
OMIM136132
Desc
Variant0002
Relatedalso


ClinVar
Risk rs1736557(A;A)
Alt rs1736557(A;A)
Reference rs1736557(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171080080G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017698.27,



[PMID 15858076] Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.


GET Evidence
FMO3-V257M
aa_change Val257Met
aa_change_short V257M
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0570738
summary This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.



[PMID 24165757] The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation