rs773560012
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs773560012(A;G) |
| Make rs773560012(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 40418190 |
| Gene | IVD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773560012 |
| dbSNP (classic) | rs773560012 |
| ClinGen | rs773560012 |
| ebi | rs773560012 |
| HLI | rs773560012 |
| Exac | rs773560012 |
| Gnomad | rs773560012 |
| Varsome | rs773560012 |
| LitVar | rs773560012 |
| Map | rs773560012 |
| PheGenI | rs773560012 |
| Biobank | rs773560012 |
| 1000 genomes | rs773560012 |
| hgdp | rs773560012 |
| ensembl | rs773560012 |
| geneview | rs773560012 |
| scholar | rs773560012 |
| rs773560012 | |
| pharmgkb | rs773560012 |
| gwascentral | rs773560012 |
| openSNP | rs773560012 |
| 23andMe | rs773560012 |
| SNPshot | rs773560012 |
| SNPdbe | rs773560012 |
| MSV3d | rs773560012 |
| GWAS Ctlg | rs773560012 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs773560012(G;G) |
| Alt | rs773560012(G;G) |
| Reference | Rs773560012(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Isovaleryl-CoA dehydrogenase deficiency |
| Variation | info |
| Gene | IVD |
| CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000015.9:g.40710389A>G |
| CLNSRC | |
| CLNACC | RCV000412119.1, |
