rs2266782
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2266782(A;A) |
| Make rs2266782(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 171107825 |
| Gene | FMO3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2266782 |
| dbSNP (classic) | rs2266782 |
| ClinGen | rs2266782 |
| ebi | rs2266782 |
| HLI | rs2266782 |
| Exac | rs2266782 |
| Gnomad | rs2266782 |
| Varsome | rs2266782 |
| LitVar | rs2266782 |
| Map | rs2266782 |
| PheGenI | rs2266782 |
| Biobank | rs2266782 |
| 1000 genomes | rs2266782 |
| hgdp | rs2266782 |
| ensembl | rs2266782 |
| geneview | rs2266782 |
| scholar | rs2266782 |
| rs2266782 | |
| pharmgkb | rs2266782 |
| gwascentral | rs2266782 |
| openSNP | rs2266782 |
| 23andMe | rs2266782 |
| SNPshot | rs2266782 |
| SNPdbe | rs2266782 |
| MSV3d | rs2266782 |
| GWAS Ctlg | rs2266782 |
| GMAF | 0.3531 |
| Max Magnitude | 0 |
Note:Minor allele has too high a frequency to truly be pathogenic, despite ClinVar designation.[PMID 28471432
]
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2266782(A;A) |
| Alt | rs2266782(A;A) |
| Reference | Rs2266782(G;G) |
| Significance | Pathogenic |
| Disease | Trimethylaminuria not specified |
| Variation | info |
| Gene | FMO3 |
| CLNDBN | Trimethylaminuria, mild Trimethylaminuria not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.171076966G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017711.6, RCV000201276.1, RCV000201278.1, RCV000248637.1, RCV000361492.1, |
[PMID 28134761] Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations
[PMID 15858076] Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.
[PMID 18180394] Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans.
[PMID 18565990] Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.
[PMID 20056567] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.
[PMID 9536088] Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
[PMID 10485731] Mild trimethylaminuria caused by common variants in FMO3 gene.
[PMID 23390647] [Catalase gene polymorphism is associated with increased risk of cerebral stroke in hypertensive patients]
[PMID 24165757] The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation
[PMID 26081749] Antioxidant-related gene polymorphisms associated with the cardio-ankle vascular index in young Russians
