rs765815516
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs765815516(C;T) |
| Make rs765815516(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 40407723 |
| Gene | IVD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765815516 |
| dbSNP (classic) | rs765815516 |
| ClinGen | rs765815516 |
| ebi | rs765815516 |
| HLI | rs765815516 |
| Exac | rs765815516 |
| Gnomad | rs765815516 |
| Varsome | rs765815516 |
| LitVar | rs765815516 |
| Map | rs765815516 |
| PheGenI | rs765815516 |
| Biobank | rs765815516 |
| 1000 genomes | rs765815516 |
| hgdp | rs765815516 |
| ensembl | rs765815516 |
| geneview | rs765815516 |
| scholar | rs765815516 |
| rs765815516 | |
| pharmgkb | rs765815516 |
| gwascentral | rs765815516 |
| openSNP | rs765815516 |
| 23andMe | rs765815516 |
| SNPshot | rs765815516 |
| SNPdbe | rs765815516 |
| MSV3d | rs765815516 |
| GWAS Ctlg | rs765815516 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765815516(T;T) |
| Alt | rs765815516(T;T) |
| Reference | Rs765815516(C;C) |
| Significance | Pathogenic |
| Disease | Isovaleryl-CoA dehydrogenase deficiency not provided |
| Variation | info |
| Gene | IVD |
| CLNDBN | Isovaleryl-CoA dehydrogenase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.40699924C>T |
| CLNSRC | |
| CLNACC | RCV000410639.1, RCV000413831.1, |
