rs6267
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common |
| (G;T) | None | |
| (T;T) | None |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 19962740 |
| Gene | COMT, MIR4761 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6267 |
| dbSNP (classic) | rs6267 |
| ClinGen | rs6267 |
| ebi | rs6267 |
| HLI | rs6267 |
| Exac | rs6267 |
| Gnomad | rs6267 |
| Varsome | rs6267 |
| LitVar | rs6267 |
| Map | rs6267 |
| PheGenI | rs6267 |
| Biobank | rs6267 |
| 1000 genomes | rs6267 |
| hgdp | rs6267 |
| ensembl | rs6267 |
| geneview | rs6267 |
| scholar | rs6267 |
| rs6267 | |
| pharmgkb | rs6267 |
| gwascentral | rs6267 |
| openSNP | rs6267 |
| 23andMe | rs6267 |
| SNPshot | rs6267 |
| SNPdbe | rs6267 |
| MSV3d | rs6267 |
| GWAS Ctlg | rs6267 |
| GMAF | 0.01699 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19365560
] Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs
[PMID 19881467] Association analysis of COMT polymorphisms with schizophrenia and smooth pursuit eye movement abnormality
| ClinVar | |
|---|---|
| Risk | rs6267(A;A) Rs6267(T;T) |
| Alt | rs6267(A;A) Rs6267(T;T) |
| Reference | Rs6267(G;G) |
| Significance | Other |
| Disease | Schizophrenia |
| Variation | info |
| Gene | COMT MIR4761 |
| CLNDBN | Schizophrenia, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000022.10:g.19950263G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019157.2, |
[PMID 15645182] Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans.
[PMID 17363961] Clinical involvement of catechol-O-methyltransferase polymorphisms in schizophrenia spectrum disorders: influence on the severity of psychotic symptoms and on the response to neuroleptic treatment.
[PMID 17482701] No associations exist between five functional polymorphisms in the catechol-O-methyltransferase gene and schizophrenia in a Japanese population.
[PMID 19329282] Meta-analysis of association between genetic variants in COMT and schizophrenia: an update.
[PMID 21342622] [Catechol-O-methyltransferase gene rs6267 polymorphism in children with attention deficit hyperactivity disorder].
[PMID 21462137] [An association study of COMT gene polymorphisms with schizophrenia].
