rs768925619
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs768925619(A;A) |
| Make rs768925619(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 12897406 |
| Gene | GCDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768925619 |
| dbSNP (classic) | rs768925619 |
| ClinGen | rs768925619 |
| ebi | rs768925619 |
| HLI | rs768925619 |
| Exac | rs768925619 |
| Gnomad | rs768925619 |
| Varsome | rs768925619 |
| LitVar | rs768925619 |
| Map | rs768925619 |
| PheGenI | rs768925619 |
| Biobank | rs768925619 |
| 1000 genomes | rs768925619 |
| hgdp | rs768925619 |
| ensembl | rs768925619 |
| geneview | rs768925619 |
| scholar | rs768925619 |
| rs768925619 | |
| pharmgkb | rs768925619 |
| gwascentral | rs768925619 |
| openSNP | rs768925619 |
| 23andMe | rs768925619 |
| SNPshot | rs768925619 |
| SNPdbe | rs768925619 |
| MSV3d | rs768925619 |
| GWAS Ctlg | rs768925619 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs768925619(A;A) |
| Alt | rs768925619(A;A) |
| Reference | Rs768925619(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13008220G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169320.1, |
