rs72549326
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1 | likely to be an unaffected carrier for a trimethylaminuria allele |
| (T;T) | 2 | trimethylaminuria & possible related issues; see discussion |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 171107811 |
| Gene | FMO3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549326 |
| dbSNP (classic) | rs72549326 |
| ClinGen | rs72549326 |
| ebi | rs72549326 |
| HLI | rs72549326 |
| Exac | rs72549326 |
| Gnomad | rs72549326 |
| Varsome | rs72549326 |
| LitVar | rs72549326 |
| Map | rs72549326 |
| PheGenI | rs72549326 |
| Biobank | rs72549326 |
| 1000 genomes | rs72549326 |
| hgdp | rs72549326 |
| ensembl | rs72549326 |
| geneview | rs72549326 |
| scholar | rs72549326 |
| rs72549326 | |
| pharmgkb | rs72549326 |
| gwascentral | rs72549326 |
| openSNP | rs72549326 |
| 23andMe | rs72549326 |
| SNPshot | rs72549326 |
| SNPdbe | rs72549326 |
| MSV3d | rs72549326 |
| GWAS Ctlg | rs72549326 |
| Max Magnitude | 2 |
rs72549326, also known as Pro153Leu, is a SNP in the FMO3 gene. Homozygous minor genotypes for this SNP have been reported to have trimethylaminuria.[PMID 8654418]
| ClinVar | |
|---|---|
| Risk | Rs72549326(T;T) |
| Alt | Rs72549326(T;T) |
| Reference | Rs72549326(C;C) |
| Significance | Pathogenic |
| Disease | Trimethylaminuria |
| Variation | info |
| Gene | FMO3 |
| CLNDBN | Trimethylaminuria |
| Reversed | 0 |
| HGVS | NC_000001.10:g.171076952C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017701.30, |
[PMID 9398858] Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.
[PMID 9536088] Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
[PMID 11191884] Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome.
