rs2266780
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2266780(A;G) |
Make rs2266780(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 171114102 |
Gene | FMO3 |
is a | snp |
is | mentioned by |
dbSNP | rs2266780 |
dbSNP (classic) | rs2266780 |
ClinGen | rs2266780 |
ebi | rs2266780 |
HLI | rs2266780 |
Exac | rs2266780 |
Gnomad | rs2266780 |
Varsome | rs2266780 |
LitVar | rs2266780 |
Map | rs2266780 |
PheGenI | rs2266780 |
Biobank | rs2266780 |
1000 genomes | rs2266780 |
hgdp | rs2266780 |
ensembl | rs2266780 |
geneview | rs2266780 |
scholar | rs2266780 |
rs2266780 | |
pharmgkb | rs2266780 |
gwascentral | rs2266780 |
openSNP | rs2266780 |
23andMe | rs2266780 |
SNPshot | rs2266780 |
SNPdbe | rs2266780 |
MSV3d | rs2266780 |
GWAS Ctlg | rs2266780 |
GMAF | 0.1299 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2266780(G;G) |
Alt | rs2266780(G;G) |
Reference | Rs2266780(A;A) |
Significance | Pathogenic |
Disease | Trimethylaminuria not specified |
Variation | info |
Gene | FMO3 |
CLNDBN | Trimethylaminuria, mild Trimethylaminuria not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.171083242A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017711.6, RCV000201276.1, RCV000254132.1, RCV000290538.1, |
[PMID 15858076] Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.
[PMID 18565990] Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.
[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 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 24173915] Effects of single nucleotide polymorphisms of FMO3 and FMO6 genes on pharmacokinetic characteristics of sulindac sulfide in premature labor
- Is a snp
- In dbSNP
- SNPs on chromosome 1
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d