rs120074176
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 5 | Possible increased risk for ADHD and other psychiatric disorders |
| Make rs120074176(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 71979053 |
| Gene | TPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074176 |
| dbSNP (classic) | rs120074176 |
| ClinGen | rs120074176 |
| ebi | rs120074176 |
| HLI | rs120074176 |
| Exac | rs120074176 |
| Gnomad | rs120074176 |
| Varsome | rs120074176 |
| LitVar | rs120074176 |
| Map | rs120074176 |
| PheGenI | rs120074176 |
| Biobank | rs120074176 |
| 1000 genomes | rs120074176 |
| hgdp | rs120074176 |
| ensembl | rs120074176 |
| geneview | rs120074176 |
| scholar | rs120074176 |
| rs120074176 | |
| pharmgkb | rs120074176 |
| gwascentral | rs120074176 |
| openSNP | rs120074176 |
| 23andMe | rs120074176 |
| SNPshot | rs120074176 |
| SNPdbe | rs120074176 |
| MSV3d | rs120074176 |
| GWAS Ctlg | rs120074176 |
| Max Magnitude | 5 |
rs120074176, also known as c.907C>T, p.Arg303Trp and R303W, represents a very rare loss-of-function mutation in the TPH2 gene on chromosome 12.
A single rs120074176(T) allele was found in a Norwegian female with ADHD as well as major depression. Carriers of this allele appear to have reduced serotonin synthesis, which may result in increased susceptibility to ADHD and possibly other psychiatric disorders.[PMID 18347598]
| ClinVar | |
|---|---|
| Risk | rs120074176(T;T) |
| Alt | rs120074176(T;T) |
| Reference | Rs120074176(C;C) |
| Significance | Other |
| Disease | Attention deficit-hyperactivity disorder 7 |
| Variation | info |
| Gene | TPH2 |
| CLNDBN | Attention deficit-hyperactivity disorder 7 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.72372833C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003313.2, |
