rs863225246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863225246(A;G) |
Make rs863225246(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133657174 |
Gene | DBH, DBH-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225246 |
dbSNP (classic) | rs863225246 |
ClinGen | rs863225246 |
ebi | rs863225246 |
HLI | rs863225246 |
Exac | rs863225246 |
Gnomad | rs863225246 |
Varsome | rs863225246 |
LitVar | rs863225246 |
Map | rs863225246 |
PheGenI | rs863225246 |
Biobank | rs863225246 |
1000 genomes | rs863225246 |
hgdp | rs863225246 |
ensembl | rs863225246 |
geneview | rs863225246 |
scholar | rs863225246 |
rs863225246 | |
pharmgkb | rs863225246 |
gwascentral | rs863225246 |
openSNP | rs863225246 |
23andMe | rs863225246 |
SNPshot | rs863225246 |
SNPdbe | rs863225246 |
MSV3d | rs863225246 |
GWAS Ctlg | rs863225246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225246(G;G) |
Alt | rs863225246(G;G) |
Reference | Rs863225246(A;A) |
Significance | Pathogenic |
Disease | Dopamine beta hydroxylase deficiency |
Variation | info |
Gene | DBH DBH-AS1 |
CLNDBN | Dopamine beta hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000009.11:g.136522296A>G |
CLNSRC | |
CLNACC | RCV000201842.1, |