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, |