rs148207467
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs148207467(C;T) |
| Make rs148207467(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 75761221 |
| Gene | ACADM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148207467 |
| dbSNP (classic) | rs148207467 |
| ClinGen | rs148207467 |
| ebi | rs148207467 |
| HLI | rs148207467 |
| Exac | rs148207467 |
| Gnomad | rs148207467 |
| Varsome | rs148207467 |
| LitVar | rs148207467 |
| Map | rs148207467 |
| PheGenI | rs148207467 |
| Biobank | rs148207467 |
| 1000 genomes | rs148207467 |
| hgdp | rs148207467 |
| ensembl | rs148207467 |
| geneview | rs148207467 |
| scholar | rs148207467 |
| rs148207467 | |
| pharmgkb | rs148207467 |
| gwascentral | rs148207467 |
| openSNP | rs148207467 |
| 23andMe | rs148207467 |
| SNPshot | rs148207467 |
| SNPdbe | rs148207467 |
| MSV3d | rs148207467 |
| GWAS Ctlg | rs148207467 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148207467(T;T) |
| Alt | rs148207467(T;T) |
| Reference | Rs148207467(C;C) |
| Significance | Pathogenic |
| Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
| Variation | info |
| Gene | ACADM |
| CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.76226906C>T |
| CLNSRC | Counsyl |
| CLNACC | RCV000169403.1, RCV000441828.1, |
