rs761317029
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs761317029(A;G) |
| Make rs761317029(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 75750449 |
| Gene | ACADM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761317029 |
| dbSNP (classic) | rs761317029 |
| ClinGen | rs761317029 |
| ebi | rs761317029 |
| HLI | rs761317029 |
| Exac | rs761317029 |
| Gnomad | rs761317029 |
| Varsome | rs761317029 |
| LitVar | rs761317029 |
| Map | rs761317029 |
| PheGenI | rs761317029 |
| Biobank | rs761317029 |
| 1000 genomes | rs761317029 |
| hgdp | rs761317029 |
| ensembl | rs761317029 |
| geneview | rs761317029 |
| scholar | rs761317029 |
| rs761317029 | |
| pharmgkb | rs761317029 |
| gwascentral | rs761317029 |
| openSNP | rs761317029 |
| 23andMe | rs761317029 |
| SNPshot | rs761317029 |
| SNPdbe | rs761317029 |
| MSV3d | rs761317029 |
| GWAS Ctlg | rs761317029 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs761317029(G;G) |
| Alt | rs761317029(G;G) |
| Reference | Rs761317029(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| Variation | info |
| Gene | ACADM |
| CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.76216134A>G |
| CLNSRC | Counsyl |
| CLNACC | RCV000169062.1, |
