rs77576840
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs77576840(C;T) |
| Make rs77576840(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133639848 |
| Gene | DBH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77576840 |
| dbSNP (classic) | rs77576840 |
| ClinGen | rs77576840 |
| ebi | rs77576840 |
| HLI | rs77576840 |
| Exac | rs77576840 |
| Gnomad | rs77576840 |
| Varsome | rs77576840 |
| LitVar | rs77576840 |
| Map | rs77576840 |
| PheGenI | rs77576840 |
| Biobank | rs77576840 |
| 1000 genomes | rs77576840 |
| hgdp | rs77576840 |
| ensembl | rs77576840 |
| geneview | rs77576840 |
| scholar | rs77576840 |
| rs77576840 | |
| pharmgkb | rs77576840 |
| gwascentral | rs77576840 |
| openSNP | rs77576840 |
| 23andMe | rs77576840 |
| SNPshot | rs77576840 |
| SNPdbe | rs77576840 |
| MSV3d | rs77576840 |
| GWAS Ctlg | rs77576840 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77576840(A;A) rs77576840(T;T) |
| Alt | rs77576840(A;A) rs77576840(T;T) |
| Reference | Rs77576840(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.136504970C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001821.4, |
