rs771914739
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs771914739(A;G) |
| Make rs771914739(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 40411258 |
| Gene | IVD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771914739 |
| dbSNP (classic) | rs771914739 |
| ClinGen | rs771914739 |
| ebi | rs771914739 |
| HLI | rs771914739 |
| Exac | rs771914739 |
| Gnomad | rs771914739 |
| Varsome | rs771914739 |
| LitVar | rs771914739 |
| Map | rs771914739 |
| PheGenI | rs771914739 |
| Biobank | rs771914739 |
| 1000 genomes | rs771914739 |
| hgdp | rs771914739 |
| ensembl | rs771914739 |
| geneview | rs771914739 |
| scholar | rs771914739 |
| rs771914739 | |
| pharmgkb | rs771914739 |
| gwascentral | rs771914739 |
| openSNP | rs771914739 |
| 23andMe | rs771914739 |
| SNPshot | rs771914739 |
| SNPdbe | rs771914739 |
| MSV3d | rs771914739 |
| GWAS Ctlg | rs771914739 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs771914739(C;C) rs771914739(G;G) |
| Alt | rs771914739(C;C) rs771914739(G;G) |
| Reference | Rs771914739(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.40703457A>G |
| CLNSRC | |
| CLNACC | RCV000169016.1, |
