rs566417795
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Glutaric aciduria type I mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a Glutaric aciduria type I mutation |
| Make rs566417795(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 12892125 |
| Gene | GCDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs566417795 |
| dbSNP (classic) | rs566417795 |
| ClinGen | rs566417795 |
| ebi | rs566417795 |
| HLI | rs566417795 |
| Exac | rs566417795 |
| Gnomad | rs566417795 |
| Varsome | rs566417795 |
| LitVar | rs566417795 |
| Map | rs566417795 |
| PheGenI | rs566417795 |
| Biobank | rs566417795 |
| 1000 genomes | rs566417795 |
| hgdp | rs566417795 |
| ensembl | rs566417795 |
| geneview | rs566417795 |
| scholar | rs566417795 |
| rs566417795 | |
| pharmgkb | rs566417795 |
| gwascentral | rs566417795 |
| openSNP | rs566417795 |
| 23andMe | rs566417795 |
| SNPshot | rs566417795 |
| SNPdbe | rs566417795 |
| MSV3d | rs566417795 |
| GWAS Ctlg | rs566417795 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs566417795(A;A) |
| Alt | rs566417795(A;A) |
| Reference | Rs566417795(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | GCDH |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13002939G>A |
| CLNSRC | |
| CLNACC | RCV000485466.1, |
