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, |