rs72549323
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | possible trimethylaminuria; see discussion |
| (C;G) | 1 | this may be a carrier genotype for trimethylaminuria |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 171103850 |
| Gene | FMO3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549323 |
| dbSNP (classic) | rs72549323 |
| ClinGen | rs72549323 |
| ebi | rs72549323 |
| HLI | rs72549323 |
| Exac | rs72549323 |
| Gnomad | rs72549323 |
| Varsome | rs72549323 |
| LitVar | rs72549323 |
| Map | rs72549323 |
| PheGenI | rs72549323 |
| Biobank | rs72549323 |
| 1000 genomes | rs72549323 |
| hgdp | rs72549323 |
| ensembl | rs72549323 |
| geneview | rs72549323 |
| scholar | rs72549323 |
| rs72549323 | |
| pharmgkb | rs72549323 |
| gwascentral | rs72549323 |
| openSNP | rs72549323 |
| 23andMe | rs72549323 |
| SNPshot | rs72549323 |
| SNPdbe | rs72549323 |
| MSV3d | rs72549323 |
| GWAS Ctlg | rs72549323 |
| Max Magnitude | 2 |
rs72549323, also known as Met66Ile, is a SNP in the FMO3 gene. It has been linked in (only) one report to trimethylaminuria.[PMID 10338091]
| ClinVar | |
|---|---|
| Risk | Rs72549323(C;C) rs72549323(T;T) |
| Alt | Rs72549323(C;C) rs72549323(T;T) |
| Reference | Rs72549323(G;G) |
| Significance | Pathogenic |
| Disease | Trimethylaminuria |
| Variation | info |
| Gene | FMO3 |
| CLNDBN | Trimethylaminuria |
| Reversed | 0 |
| HGVS | NC_000001.10:g.171072991G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017699.30, |
