rs748110745
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs748110745(G;T) |
| Make rs748110745(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 75761326 |
| Gene | ACADM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748110745 |
| dbSNP (classic) | rs748110745 |
| ClinGen | rs748110745 |
| ebi | rs748110745 |
| HLI | rs748110745 |
| Exac | rs748110745 |
| Gnomad | rs748110745 |
| Varsome | rs748110745 |
| LitVar | rs748110745 |
| Map | rs748110745 |
| PheGenI | rs748110745 |
| Biobank | rs748110745 |
| 1000 genomes | rs748110745 |
| hgdp | rs748110745 |
| ensembl | rs748110745 |
| geneview | rs748110745 |
| scholar | rs748110745 |
| rs748110745 | |
| pharmgkb | rs748110745 |
| gwascentral | rs748110745 |
| openSNP | rs748110745 |
| 23andMe | rs748110745 |
| SNPshot | rs748110745 |
| SNPdbe | rs748110745 |
| MSV3d | rs748110745 |
| GWAS Ctlg | rs748110745 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748110745(T;T) |
| Alt | rs748110745(T;T) |
| Reference | Rs748110745(G;G) |
| 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.76227011G>T |
| CLNSRC | |
| CLNACC | RCV000411952.1, |
