rs138058572
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs138058572(A;A) |
| Make rs138058572(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 7223993 |
| Gene | ACADVL, MIR324 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138058572 |
| dbSNP (classic) | rs138058572 |
| ClinGen | rs138058572 |
| ebi | rs138058572 |
| HLI | rs138058572 |
| Exac | rs138058572 |
| Gnomad | rs138058572 |
| Varsome | rs138058572 |
| LitVar | rs138058572 |
| Map | rs138058572 |
| PheGenI | rs138058572 |
| Biobank | rs138058572 |
| 1000 genomes | rs138058572 |
| hgdp | rs138058572 |
| ensembl | rs138058572 |
| geneview | rs138058572 |
| scholar | rs138058572 |
| rs138058572 | |
| pharmgkb | rs138058572 |
| gwascentral | rs138058572 |
| openSNP | rs138058572 |
| 23andMe | rs138058572 |
| SNPshot | rs138058572 |
| SNPdbe | rs138058572 |
| MSV3d | rs138058572 |
| GWAS Ctlg | rs138058572 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138058572(A;A) |
| Alt | rs138058572(A;A) |
| Reference | Rs138058572(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Myopathy Rhabdomyolysis |
| Variation | info |
| Gene | MIR324 ACADVL |
| CLNDBN | Myopathy Rhabdomyolysis |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7127312G>A |
| CLNSRC | |
| CLNACC | RCV000415274.1, |
