rs9384
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs9384(G;T) |
| Make rs9384(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 12899829 |
| Gene | GCDH, SYCE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9384 |
| dbSNP (classic) | rs9384 |
| ClinGen | rs9384 |
| ebi | rs9384 |
| HLI | rs9384 |
| Exac | rs9384 |
| Gnomad | rs9384 |
| Varsome | rs9384 |
| LitVar | rs9384 |
| Map | rs9384 |
| PheGenI | rs9384 |
| Biobank | rs9384 |
| 1000 genomes | rs9384 |
| hgdp | rs9384 |
| ensembl | rs9384 |
| geneview | rs9384 |
| scholar | rs9384 |
| rs9384 | |
| pharmgkb | rs9384 |
| gwascentral | rs9384 |
| openSNP | rs9384 |
| 23andMe | rs9384 |
| SNPshot | rs9384 |
| SNPdbe | rs9384 |
| MSV3d | rs9384 |
| GWAS Ctlg | rs9384 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs9384(T;T) |
| Alt | rs9384(T;T) |
| Reference | Rs9384(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Glutaric aciduria Glutaric acidemia |
| Variation | info |
| Gene | SYCE2 GCDH |
| CLNDBN | Glutaric aciduria, type 1 Glutaric acidemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13010643G>T |
| CLNSRC | |
| CLNACC | RCV000190519.1, RCV000336585.1, |
