rs4531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common on affy axiom data |
Make rs4531(G;T) |
Make rs4531(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 133644248 |
Gene | DBH |
is a | snp |
is | mentioned by |
dbSNP | rs4531 |
dbSNP (classic) | rs4531 |
ClinGen | rs4531 |
ebi | rs4531 |
HLI | rs4531 |
Exac | rs4531 |
Gnomad | rs4531 |
Varsome | rs4531 |
LitVar | rs4531 |
Map | rs4531 |
PheGenI | rs4531 |
Biobank | rs4531 |
1000 genomes | rs4531 |
hgdp | rs4531 |
ensembl | rs4531 |
geneview | rs4531 |
scholar | rs4531 |
rs4531 | |
pharmgkb | rs4531 |
gwascentral | rs4531 |
openSNP | rs4531 |
23andMe | rs4531 |
SNPshot | rs4531 |
SNPdbe | rs4531 |
MSV3d | rs4531 |
GWAS Ctlg | rs4531 |
GMAF | 0.0629 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.[PMID 17135278]
[PMID 16642433] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[PMID 18330705] Physiogenomic analysis of localized FMRI brain activity in schizophrenia.
ClinVar | |
---|---|
Risk | rs4531(A;A) rs4531(T;T) |
Alt | rs4531(A;A) rs4531(T;T) |
Reference | Rs4531(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.136509370G>T |
CLNSRC | |
CLNACC | RCV000387809.1, |