rs129882
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs129882(C;T) |
| Make rs129882(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133658547 |
| Gene | DBH, DBH-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs129882 |
| dbSNP (classic) | rs129882 |
| ClinGen | rs129882 |
| ebi | rs129882 |
| HLI | rs129882 |
| Exac | rs129882 |
| Gnomad | rs129882 |
| Varsome | rs129882 |
| LitVar | rs129882 |
| Map | rs129882 |
| PheGenI | rs129882 |
| Biobank | rs129882 |
| 1000 genomes | rs129882 |
| hgdp | rs129882 |
| ensembl | rs129882 |
| geneview | rs129882 |
| scholar | rs129882 |
| rs129882 | |
| pharmgkb | rs129882 |
| gwascentral | rs129882 |
| openSNP | rs129882 |
| 23andMe | rs129882 |
| SNPshot | rs129882 |
| SNPdbe | rs129882 |
| MSV3d | rs129882 |
| GWAS Ctlg | rs129882 |
| GMAF | 0.2195 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20498626] Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians
[PMID 25975715] Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with attention deficit hyperactivity disorder
| ClinVar | |
|---|---|
| Risk | rs129882(T;T) |
| Alt | rs129882(T;T) |
| Reference | Rs129882(C;C) |
| Significance | 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.136523669C>T |
| CLNSRC | |
| CLNACC | RCV000384217.1, |
