rs4290270
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs4290270(A;T) |
| Make rs4290270(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 72022455 |
| Gene | TPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4290270 |
| dbSNP (classic) | rs4290270 |
| ClinGen | rs4290270 |
| ebi | rs4290270 |
| HLI | rs4290270 |
| Exac | rs4290270 |
| Gnomad | rs4290270 |
| Varsome | rs4290270 |
| LitVar | rs4290270 |
| Map | rs4290270 |
| PheGenI | rs4290270 |
| Biobank | rs4290270 |
| 1000 genomes | rs4290270 |
| hgdp | rs4290270 |
| ensembl | rs4290270 |
| geneview | rs4290270 |
| scholar | rs4290270 |
| rs4290270 | |
| pharmgkb | rs4290270 |
| gwascentral | rs4290270 |
| openSNP | rs4290270 |
| 23andMe | rs4290270 |
| SNPshot | rs4290270 |
| SNPdbe | rs4290270 |
| MSV3d | rs4290270 |
| GWAS Ctlg | rs4290270 |
| GMAF | 0.4949 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
Only for Hispanics, individuals who have a genoset composed of rs1799913(C;C) and rs4290270(T;T) are reported to be at 9x higher risk for developing heroin addiction (CI:0.83-244.63, p=0.012).[PMID 18181017]
[PMID 19352219] Support for tryptophan hydroxylase-2 as a susceptibility gene for bipolar affective disorder
[PMID 19763617] Involvement of tryptophan hydroxylase 2 (TPH2) gene polymorphisms in susceptibility to coronary artery lesions in Korean children with Kawasaki disease
[PMID 21620479] Tryptophan hydroxylase 2 gene is associated with major depressive disorder in a female Chinese population
[PMID 17167340] Polymorphisms in the neuronal isoform of tryptophan hydroxylase 2 are associated with bipolar disorder in French Canadian pedigrees.
[PMID 17453063] Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human pons.
[PMID 18698231
] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 19693267] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
[PMID 20126463] Alternative splicing and extensive RNA editing of human TPH2 transcripts.
[PMID 20938755] Association study of tryptophan hydroxylase-2 gene in schizophrenia and its clinical features in Chinese Han population.
[PMID 21172166] Pharmacogenetics of antidepressant response.
[PMID 21937687] Influence and interaction of genetic polymorphisms in the serotonin system and life stress on antidepressant drug response.
[PMID 22655589] Investigation of tryptophan hydroxylase 2 (TPH2) in schizophrenia and in the response to antipsychotics.
[PMID 23628433] Genetic association and gene-gene interaction analyses suggest likely involvement of ITGB3 and TPH2 with autism spectrum disorder (ASD) in the Indian population.
[PMID 26028568] Association analysis of TPH-1 and TPH-2 genes with suicidal behavior in patients with attempted suicide in Mexican population
[PMID 26057341] Tryptophan hydroxylase 2 gene is associated with cognition in late-onset depression in a Chinese Han population
[PMID 26232682] Genetic variability in tryptophan hydroxylase 2 gene in alcohol dependence and alcohol-related psychopathological symptoms
| ClinVar | |
|---|---|
| Risk | rs4290270(T;T) |
| Alt | rs4290270(T;T) |
| Reference | Rs4290270(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Tryptophan 5-monooxygenase deficiency |
| Variation | info |
| Gene | TPH2 |
| CLNDBN | Tryptophan 5-monooxygenase deficiency |
| Reversed | 0 |
| HGVS | NC_000012.11:g.72416235A>T |
| CLNSRC | |
| CLNACC | RCV000405228.1, |
[PMID 32634583] Genome-wide association study identifies TPH2 variant as a novel locus for severe CV-A6-associated hand, foot, and mouth disease in Han Chinese.
