rs75215331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs75215331(C;T) |
Make rs75215331(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133647906 |
Gene | DBH |
is a | snp |
is | mentioned by |
dbSNP | rs75215331 |
dbSNP (classic) | rs75215331 |
ClinGen | rs75215331 |
ebi | rs75215331 |
HLI | rs75215331 |
Exac | rs75215331 |
Gnomad | rs75215331 |
Varsome | rs75215331 |
LitVar | rs75215331 |
Map | rs75215331 |
PheGenI | rs75215331 |
Biobank | rs75215331 |
1000 genomes | rs75215331 |
hgdp | rs75215331 |
ensembl | rs75215331 |
geneview | rs75215331 |
scholar | rs75215331 |
rs75215331 | |
pharmgkb | rs75215331 |
gwascentral | rs75215331 |
openSNP | rs75215331 |
23andMe | rs75215331 |
SNPshot | rs75215331 |
SNPdbe | rs75215331 |
MSV3d | rs75215331 |
GWAS Ctlg | rs75215331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75215331(A;A) rs75215331(T;T) |
Alt | rs75215331(A;A) rs75215331(T;T) |
Reference | Rs75215331(C;C) |
Significance | Pathogenic |
Disease | Dopamine beta hydroxylase deficiency |
Variation | info |
Gene | DBH |
CLNDBN | Dopamine beta hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000009.11:g.136513028C>A |
CLNSRC | |
CLNACC | RCV000201828.1, |