rs752334462
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Glutaric aciduria type I mutation |
| Make rs752334462(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 12893530 |
| Gene | GCDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752334462 |
| dbSNP (classic) | rs752334462 |
| ClinGen | rs752334462 |
| ebi | rs752334462 |
| HLI | rs752334462 |
| Exac | rs752334462 |
| Gnomad | rs752334462 |
| Varsome | rs752334462 |
| LitVar | rs752334462 |
| Map | rs752334462 |
| PheGenI | rs752334462 |
| Biobank | rs752334462 |
| 1000 genomes | rs752334462 |
| hgdp | rs752334462 |
| ensembl | rs752334462 |
| geneview | rs752334462 |
| scholar | rs752334462 |
| rs752334462 | |
| pharmgkb | rs752334462 |
| gwascentral | rs752334462 |
| openSNP | rs752334462 |
| 23andMe | rs752334462 |
| SNPshot | rs752334462 |
| SNPdbe | rs752334462 |
| MSV3d | rs752334462 |
| GWAS Ctlg | rs752334462 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs752334462(T;T) |
| Alt | rs752334462(T;T) |
| Reference | Rs752334462(C;C) |
| Significance | Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13004344C>T |
| CLNSRC | |
| CLNACC | RCV000409274.1, |
