rs6271
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs6271(C;T) |
| Make rs6271(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133657152 |
| Gene | DBH, DBH-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6271 |
| dbSNP (classic) | rs6271 |
| ClinGen | rs6271 |
| ebi | rs6271 |
| HLI | rs6271 |
| Exac | rs6271 |
| Gnomad | rs6271 |
| Varsome | rs6271 |
| LitVar | rs6271 |
| Map | rs6271 |
| PheGenI | rs6271 |
| Biobank | rs6271 |
| 1000 genomes | rs6271 |
| hgdp | rs6271 |
| ensembl | rs6271 |
| geneview | rs6271 |
| scholar | rs6271 |
| rs6271 | |
| pharmgkb | rs6271 |
| gwascentral | rs6271 |
| openSNP | rs6271 |
| 23andMe | rs6271 |
| SNPshot | rs6271 |
| SNPdbe | rs6271 |
| MSV3d | rs6271 |
| GWAS Ctlg | rs6271 |
| GMAF | 0.03214 |
| Max Magnitude | 0 |
aka c.1645C>T, p.Arg549Cys and R549C
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23384717] Association Between 1603C>T Polymorphism of DBH Gene and Bipolar Disorder in a Turkish Population
[PMID 16616730] A single nucleotide polymorphism at DBH, possibly associated with attention-deficit/hyperactivity disorder, associates with lower plasma dopamine beta-hydroxylase activity and is in linkage disequilibrium with two putative functional single nucleotide polymorphisms.
[PMID 17457369] Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African Americans.
[PMID 21509519
] Linkage analysis of plasma dopamine beta-hydroxylase activity in families of patients with schizophrenia.
[PMID 23416088] Genotype-independent decrease in plasma dopamine beta-hydroxylase activity in Alzheimer's disease.
[PMID 28707163] An in vitro functional study concluded that rs6271 (R549C) exhibited both decreased homospecific activity and differential secretion compared to a wild-type (normal) control.
| ClinVar | |
|---|---|
| Risk | rs6271(T;T) |
| Alt | rs6271(T;T) |
| Reference | Rs6271(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Dopamine beta hydroxylase deficiency |
| Variation | info |
| Gene | DBH DBH-AS1 |
| CLNDBN | Dopamine beta hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136522274C>T |
| CLNSRC | |
| CLNACC | RCV000318690.1, |
[PMID 30817802] A single nucleotide polymorphism in dopamine beta hydroxylase (rs6271(C>T)) is over-represented in inflammatory bowel disease patients and reduces circulating enzyme.
