rs72549325
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 171107795 |
| Gene | FMO3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549325 |
| dbSNP (classic) | rs72549325 |
| ClinGen | rs72549325 |
| ebi | rs72549325 |
| HLI | rs72549325 |
| Exac | rs72549325 |
| Gnomad | rs72549325 |
| Varsome | rs72549325 |
| LitVar | rs72549325 |
| Map | rs72549325 |
| PheGenI | rs72549325 |
| Biobank | rs72549325 |
| 1000 genomes | rs72549325 |
| hgdp | rs72549325 |
| ensembl | rs72549325 |
| geneview | rs72549325 |
| scholar | rs72549325 |
| rs72549325 | |
| pharmgkb | rs72549325 |
| gwascentral | rs72549325 |
| openSNP | rs72549325 |
| 23andMe | rs72549325 |
| SNPshot | rs72549325 |
| SNPdbe | rs72549325 |
| MSV3d | rs72549325 |
| GWAS Ctlg | rs72549325 |
| Max Magnitude | 1 |
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]
| ClinVar | |
|---|---|
| Risk | rs72549325(A;A) Rs72549325(T;T) |
| Alt | rs72549325(A;A) Rs72549325(T;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 | RCV000017703.29, |
