rs201951824
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201951824(C;T) |
| Make rs201951824(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 50476625 |
| Gene | DDC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201951824 |
| dbSNP (classic) | rs201951824 |
| ClinGen | rs201951824 |
| ebi | rs201951824 |
| HLI | rs201951824 |
| Exac | rs201951824 |
| Gnomad | rs201951824 |
| Varsome | rs201951824 |
| LitVar | rs201951824 |
| Map | rs201951824 |
| PheGenI | rs201951824 |
| Biobank | rs201951824 |
| 1000 genomes | rs201951824 |
| hgdp | rs201951824 |
| ensembl | rs201951824 |
| geneview | rs201951824 |
| scholar | rs201951824 |
| rs201951824 | |
| pharmgkb | rs201951824 |
| gwascentral | rs201951824 |
| openSNP | rs201951824 |
| 23andMe | rs201951824 |
| SNPshot | rs201951824 |
| SNPdbe | rs201951824 |
| MSV3d | rs201951824 |
| GWAS Ctlg | rs201951824 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201951824(T;T) |
| Alt | rs201951824(T;T) |
| Reference | Rs201951824(C;C) |
| Significance | Pathogenic |
| Disease | Deficiency of aromatic-L-amino-acid decarboxylase |
| Variation | info |
| Gene | DDC |
| CLNDBN | Deficiency of aromatic-L-amino-acid decarboxylase |
| Reversed | 0 |
| HGVS | NC_000007.13:g.50544323C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000184027.1, |
