rs148584617
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148584617(A;A) |
| Make rs148584617(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 17 |
| Position | 7224973 |
| Gene | ACADVL, DVL2, MIR324 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148584617 |
| dbSNP (classic) | rs148584617 |
| ClinGen | rs148584617 |
| ebi | rs148584617 |
| HLI | rs148584617 |
| Exac | rs148584617 |
| Gnomad | rs148584617 |
| Varsome | rs148584617 |
| LitVar | rs148584617 |
| Map | rs148584617 |
| PheGenI | rs148584617 |
| Biobank | rs148584617 |
| 1000 genomes | rs148584617 |
| hgdp | rs148584617 |
| ensembl | rs148584617 |
| geneview | rs148584617 |
| scholar | rs148584617 |
| rs148584617 | |
| pharmgkb | rs148584617 |
| gwascentral | rs148584617 |
| openSNP | rs148584617 |
| 23andMe | rs148584617 |
| SNPshot | rs148584617 |
| SNPdbe | rs148584617 |
| MSV3d | rs148584617 |
| GWAS Ctlg | rs148584617 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148584617(A;A) |
| Alt | rs148584617(A;A) |
| Reference | Rs148584617(G;G) |
| Significance | Pathogenic |
| Disease | not provided Very long chain acyl-CoA dehydrogenase deficiency not specified |
| Variation | info |
| Gene | MIR324 ACADVL DVL2 |
| CLNDBN | not provided Very long chain acyl-CoA dehydrogenase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7128292G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000176020.4, RCV000193309.1, RCV000259174.1, |
