rs761491320
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs761491320(-;-) |
| Make rs761491320(-;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 12896417 |
| Gene | GCDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761491320 |
| dbSNP (classic) | rs761491320 |
| ClinGen | rs761491320 |
| ebi | rs761491320 |
| HLI | rs761491320 |
| Exac | rs761491320 |
| Gnomad | rs761491320 |
| Varsome | rs761491320 |
| LitVar | rs761491320 |
| Map | rs761491320 |
| PheGenI | rs761491320 |
| Biobank | rs761491320 |
| 1000 genomes | rs761491320 |
| hgdp | rs761491320 |
| ensembl | rs761491320 |
| geneview | rs761491320 |
| scholar | rs761491320 |
| rs761491320 | |
| pharmgkb | rs761491320 |
| gwascentral | rs761491320 |
| openSNP | rs761491320 |
| 23andMe | rs761491320 |
| SNPshot | rs761491320 |
| SNPdbe | rs761491320 |
| MSV3d | rs761491320 |
| GWAS Ctlg | rs761491320 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs761491320(-;-) |
| Alt | rs761491320(-;-) |
| Reference | Rs761491320(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13007231delT |
| CLNSRC | |
| CLNACC | RCV000410398.1, |
