rs5320
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs5320(A;A) |
| Make rs5320(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133642351 |
| Gene | DBH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5320 |
| dbSNP (classic) | rs5320 |
| ClinGen | rs5320 |
| ebi | rs5320 |
| HLI | rs5320 |
| Exac | rs5320 |
| Gnomad | rs5320 |
| Varsome | rs5320 |
| LitVar | rs5320 |
| Map | rs5320 |
| PheGenI | rs5320 |
| Biobank | rs5320 |
| 1000 genomes | rs5320 |
| hgdp | rs5320 |
| ensembl | rs5320 |
| geneview | rs5320 |
| scholar | rs5320 |
| rs5320 | |
| pharmgkb | rs5320 |
| gwascentral | rs5320 |
| openSNP | rs5320 |
| 23andMe | rs5320 |
| SNPshot | rs5320 |
| SNPdbe | rs5320 |
| MSV3d | rs5320 |
| GWAS Ctlg | rs5320 |
| GMAF | 0.1056 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 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 22513716] Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese
[PMID 22895683] Association of dopaminergic/GABAergic genes with attention deficit hyperactivity disorder in children
| ClinVar | |
|---|---|
| Risk | rs5320(A;A) |
| Alt | rs5320(A;A) |
| Reference | Rs5320(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Dopamine beta hydroxylase deficiency |
| Variation | info |
| Gene | DBH |
| CLNDBN | Dopamine beta hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136507473G>A |
| CLNSRC | |
| CLNACC | RCV000404226.1, |
