rs4818
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) |
| Make rs4818(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 19963684 |
| Gene | COMT, MIR4761 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4818 |
| dbSNP (classic) | rs4818 |
| ClinGen | rs4818 |
| ebi | rs4818 |
| HLI | rs4818 |
| Exac | rs4818 |
| Gnomad | rs4818 |
| Varsome | rs4818 |
| LitVar | rs4818 |
| Map | rs4818 |
| PheGenI | rs4818 |
| Biobank | rs4818 |
| 1000 genomes | rs4818 |
| hgdp | rs4818 |
| ensembl | rs4818 |
| geneview | rs4818 |
| scholar | rs4818 |
| rs4818 | |
| pharmgkb | rs4818 |
| gwascentral | rs4818 |
| openSNP | rs4818 |
| 23andMe | rs4818 |
| SNPshot | rs4818 |
| SNPdbe | rs4818 |
| MSV3d | rs4818 |
| GWAS Ctlg | rs4818 |
| GMAF | 0.3232 |
| Max Magnitude | 0 |
Seems to play a role in the brain
This is a synonymous change. it does not affect the amino acid.
[PMID 19367610] Gender-specific COMT Val158Met polymorphism association in Spanish schizophrenic patients
[PMID 19290789] Association studies of catechol-O-methyltransferase (COMT) gene with schizophrenia and response to antipsychotic treatment
[PMID 19551860] Common germline polymorphisms in COMT, CYP19A1, ESR1, PGR, SULT1E1 and STS and survival after a diagnosis of breast cancer
[PMID 19605537
] Effects of Catechol-O-Methyltransferase on Normal Variation in the Cognitive Function of Children
[PMID 19699472] Tolcapone Effects on Gating, Working Memory, and Mood Interact with the Synonymous Catechol-O-methyltransferase rs4818C/G Polymorphism
[PMID 20570835] No evidence for a role of the catechol-O-methyltransferase pain sensitivity haplotypes in chronic widespread pain
[PMID 21120493] Influence of catechol-O-methyltransferase (COMT) gene polymorphisms in pain sensibility of Brazilian fibromialgia patients
[PMID 21300128] COMT Val158met variant and functional haplotypes associated with childhood ADHD history in women with bulimia nervosa
[PMID 21940152] The impact of COMT gene polymorphisms on suicidality in treatment resistant major depressive disorder - A European Multicenter Study
[PMID 22451510] Catechol-O-Methyltransferase Gene and Executive Function in Children With ADHD
[PMID 22528689] Pain sensitivity in fibromyalgia is associated with catechol-O-methyltransferase (COMT) gene
[PMID 10709220] Through the Looking Glass: Differential Noradenergic Modulation of Prefrontal Cortical Function
[PMID 22178088] Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome
[PMID 15290009] Differential expression of human COMT alleles in brain and lymphoblasts detected by RT-coupled 5' nuclease assay.
[PMID 16026601] Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
[PMID 16816940] Direct molecular haplotyping of multiple polymorphisms within exon 4 of the human catechol-O-methyltransferase gene by liquid chromatography-electrospray ionization time-of-flight mass spectrometry.
[PMID 16848906] Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.
[PMID 17135598] No evidence for a major role of polymorphisms during bupropion treatment.
[PMID 17961261] Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia.
[PMID 17994190] Norepinephrine transporter and catecholamine-O-methyltransferase gene variants and attention-deficit/hyperactivity disorder symptoms in adults.
[PMID 18037454] Planning, decision-making and the COMT rs4818 polymorphism in healthy males.
[PMID 18324659] COMT polymorphisms affecting protein expression are risk factors for endometrial cancer.
[PMID 18574484] The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.
[PMID 18698234] The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson's disease, levodopa treatment response, and complications.
[PMID 18802928] Association between catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in adults.
[PMID 19094200] Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain.
[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 19365560] Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs.
[PMID 19693267] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
[PMID 20531207] The impact of catechol-O-methyltransferase SNPs and haplotypes on treatment response phenotypes in major depressive disorder: a case-control association study.
[PMID 20627703] The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder.
[PMID 20842020] Catecholamine-o-methyltransferase polymorphisms are associated with postoperative pain intensity.
[PMID 20863768] Association of catechol-O-methyltransferase genetic variants with outcome in patients undergoing surgical treatment for lumbar degenerative disc disease.
[PMID 21304959] Epistasis between COMT and MTHFR in maternal-fetal dyads increases risk for preeclampsia.
[PMID 21423693] Effect sizes in experimental pain produced by gender, genetic variants and sensitization procedures.
[PMID 21462137] [An association study of COMT gene polymorphisms with schizophrenia].
[PMID 21680027] Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response.
[PMID 22354729] Association of catechol-O-methyltransferase gene polymorphisms with schizophrenia and negative symptoms in a Chinese population.
[PMID 23872233] The relationship between the presence of ADHD and certain candidate gene polymorphisms in a Turkish sample
[PMID 24448899] Metabolic syndrome in patients taking clozapine: prevalence and influence of catechol-O-methyltransferase genotype
[PMID 22718527] The associations between OPRM 1 and COMT genotypes and postoperative pain, opioid use, and opioid-induced sedation.
[PMID 22890010] Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.
[PMID 23178897] The catechol-O-methyltransferase gene (COMT) and cognitive function from childhood through adolescence.
[PMID 24593143] Genetic polymorphisms of catechol-O-methyltransferase modify the neurobehavioral effects of mercury in children
[PMID 25636089] [Polymorphisms of catechol-O-methyltransferase and monoamine oxidase B genes among Chinese patients with Parkinson's disease]
[PMID 26849490] Association between catechol-O-methyl transferase gene polymorphisms and fibromyalgia in a Korean population: A case-control study.
[PMID 27228319] A Tetra-Primer Amplification Refractory System Technique for the Cost-Effective and Novel Genotyping of Eight Single-Nucleotide Polymorphisms of the Catechol-O-Methyltransferase Gene.
| ClinVar | |
|---|---|
| Risk | rs4818(G;G) rs4818(T;T) |
| Alt | rs4818(G;G) rs4818(T;T) |
| Reference | Rs4818(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | COMT MIR4761 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.19951207C>G |
| CLNSRC | |
| CLNACC | RCV000252295.1, |
[PMID 28451382] Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease.
[PMID 29559808] Association of genetic variation in COMT gene with pain related to sickle cell disease in patients from the walk-PHaSST study.
