rs841
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 2 | decreased baroreflex sensitivity, heart rate variability, and in women, hypertension |
| Make rs841(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 54843774 |
| Gene | GCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs841 |
| dbSNP (classic) | rs841 |
| ClinGen | rs841 |
| ebi | rs841 |
| HLI | rs841 |
| Exac | rs841 |
| Gnomad | rs841 |
| Varsome | rs841 |
| LitVar | rs841 |
| Map | rs841 |
| PheGenI | rs841 |
| Biobank | rs841 |
| 1000 genomes | rs841 |
| hgdp | rs841 |
| ensembl | rs841 |
| geneview | rs841 |
| scholar | rs841 |
| rs841 | |
| pharmgkb | rs841 |
| gwascentral | rs841 |
| openSNP | rs841 |
| 23andMe | rs841 |
| SNPshot | rs841 |
| SNPdbe | rs841 |
| MSV3d | rs841 |
| GWAS Ctlg | rs841 |
| GMAF | 0.2672 |
| Max Magnitude | 2 |
rs841, also known as C+243T or C59038T, is a SNP in the 3' UTR of the GTP cyclohydrolase 1 GCH1 gene on chromosome 14.
For the associations reported for rs841(T;T), see [PMID 17717598
].
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20581851] Exploring epistatic relationships of NO biosynthesis pathway genes in susceptibility to CHD
[PMID 21963893] Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population
[PMID 17343757] Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans.
[PMID 19775452] Do genetic predictors of pain sensitivity associate with persistent widespread pain?
[PMID 21896313] Functional polymorphism of the GTP cyclohydrolase 1 gene affects the personality trait of novelty seeking in healthy subjects.
[PMID 22770721] GTP cyclohydrolase 1 gene haplotypes as predictors of SSRI response in Japanese patients with major depressive disorder
[PMID 23246742] Association of monoamine-synthesizing genes with the depression tendency and personality in chronic fatigue syndrome patients.
[PMID 23322459] Association of guanosine triphosphate cyclohydrolase 1 gene polymorphisms with fibromyalgia syndrome in a Korean population.
| ClinVar | |
|---|---|
| Risk | Rs841(T;T) |
| Alt | Rs841(T;T) |
| Reference | Rs841(C;C) |
| Significance | Non-pathogenic |
| Disease | Dystonia GTP cyclohydrolase I deficiency not specified |
| Variation | info |
| Gene | GCH1 |
| CLNDBN | Dystonia, dopa-responsive GTP cyclohydrolase I deficiency not specified |
| Reversed | 1 |
| HGVS | NC_000014.8:g.55310492G>A |
| CLNSRC | |
| CLNACC | RCV000275021.1, RCV000329936.1, RCV000435679.1, |
[PMID 29486785] Identification of candidate genes associated with fibromyalgia susceptibility in southern Spanish women: the al-Ándalus project.
