rs61753344
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 2 | trimethylaminuria, to varying degrees |
| (T;T) | 3 | trimethylaminuria & possible related issues |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 171114092 |
| Gene | FMO3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61753344 |
| dbSNP (classic) | rs61753344 |
| ClinGen | rs61753344 |
| ebi | rs61753344 |
| HLI | rs61753344 |
| Exac | rs61753344 |
| Gnomad | rs61753344 |
| Varsome | rs61753344 |
| LitVar | rs61753344 |
| Map | rs61753344 |
| PheGenI | rs61753344 |
| Biobank | rs61753344 |
| 1000 genomes | rs61753344 |
| hgdp | rs61753344 |
| ensembl | rs61753344 |
| geneview | rs61753344 |
| scholar | rs61753344 |
| rs61753344 | |
| pharmgkb | rs61753344 |
| gwascentral | rs61753344 |
| openSNP | rs61753344 |
| 23andMe | rs61753344 |
| SNPshot | rs61753344 |
| SNPdbe | rs61753344 |
| MSV3d | rs61753344 |
| GWAS Ctlg | rs61753344 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
rs61753344 is a SNP in the FMO3 gene. It has been reported in both homozygous and heterozygous forms to potentially be linked to trimethylaminuria; in the homozygous form, it has also been linked to tachycardia and severe hypertension after eating cheese (which contains tyramine) and after using nasal epinephrine.[PMID 987532]
| ClinVar | |
|---|---|
| Risk | Rs61753344(T;T) |
| Alt | Rs61753344(T;T) |
| Reference | Rs61753344(G;G) |
| Significance | Pathogenic |
| Disease | Trimethylaminuria |
| Variation | info |
| Gene | FMO3 |
| CLNDBN | Trimethylaminuria |
| Reversed | 0 |
| HGVS | NC_000001.10:g.171083232G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017697.30, |
[PMID 9536088] Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
