rs386833578
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs386833578(A;C) |
| Make rs386833578(C;C) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 9 |
| Position | 6620205 |
| Gene | GLDC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833578 |
| dbSNP (classic) | rs386833578 |
| ClinGen | rs386833578 |
| ebi | rs386833578 |
| HLI | rs386833578 |
| Exac | rs386833578 |
| Gnomad | rs386833578 |
| Varsome | rs386833578 |
| LitVar | rs386833578 |
| Map | rs386833578 |
| PheGenI | rs386833578 |
| Biobank | rs386833578 |
| 1000 genomes | rs386833578 |
| hgdp | rs386833578 |
| ensembl | rs386833578 |
| geneview | rs386833578 |
| scholar | rs386833578 |
| rs386833578 | |
| pharmgkb | rs386833578 |
| gwascentral | rs386833578 |
| openSNP | rs386833578 |
| 23andMe | rs386833578 |
| SNPshot | rs386833578 |
| SNPdbe | rs386833578 |
| MSV3d | rs386833578 |
| GWAS Ctlg | rs386833578 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833578(C;C) rs386833578(G;G) |
| Alt | rs386833578(C;C) rs386833578(G;G) |
| Reference | Rs386833578(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Non-ketotic hyperglycinemia |
| Variation | info |
| Gene | GLDC |
| CLNDBN | Non-ketotic hyperglycinemia |
| Reversed | 1 |
| HGVS | NC_000009.11:g.6620205T>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000049505.1, |
[PMID 15192636] Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
