rs72549321
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | trimethylaminuria & possible related issues; see discussion |
| (A;G) | 1 | likely to be an unaffected carrier of a trimethylaminuria allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 171103806 |
| Gene | FMO3, MIR1295A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549321 |
| dbSNP (classic) | rs72549321 |
| ClinGen | rs72549321 |
| ebi | rs72549321 |
| HLI | rs72549321 |
| Exac | rs72549321 |
| Gnomad | rs72549321 |
| Varsome | rs72549321 |
| LitVar | rs72549321 |
| Map | rs72549321 |
| PheGenI | rs72549321 |
| Biobank | rs72549321 |
| 1000 genomes | rs72549321 |
| hgdp | rs72549321 |
| ensembl | rs72549321 |
| geneview | rs72549321 |
| scholar | rs72549321 |
| rs72549321 | |
| pharmgkb | rs72549321 |
| gwascentral | rs72549321 |
| openSNP | rs72549321 |
| 23andMe | rs72549321 |
| SNPshot | rs72549321 |
| SNPdbe | rs72549321 |
| MSV3d | rs72549321 |
| GWAS Ctlg | rs72549321 |
| Max Magnitude | 2 |
rs72549321, also known as Ala52Thr, is a SNP in the FMO3 gene. The homozygous minor genotype for this SNP has been reported in a single patient with trimethylaminuria.[PMID 10479479]
| ClinVar | |
|---|---|
| Risk | Rs72549321(A;A) |
| Alt | Rs72549321(A;A) |
| Reference | Rs72549321(G;G) |
| Significance | Pathogenic |
| Disease | Trimethylaminuria |
| Variation | info |
| Gene | FMO3 MIR1295A |
| CLNDBN | Trimethylaminuria |
| Reversed | 0 |
| HGVS | NC_000001.10:g.171072947G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017700.30, |
