rs751829413
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs751829413(A;C) |
| Make rs751829413(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 75745815 |
| Gene | ACADM, DLSTP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751829413 |
| dbSNP (classic) | rs751829413 |
| ClinGen | rs751829413 |
| ebi | rs751829413 |
| HLI | rs751829413 |
| Exac | rs751829413 |
| Gnomad | rs751829413 |
| Varsome | rs751829413 |
| LitVar | rs751829413 |
| Map | rs751829413 |
| PheGenI | rs751829413 |
| Biobank | rs751829413 |
| 1000 genomes | rs751829413 |
| hgdp | rs751829413 |
| ensembl | rs751829413 |
| geneview | rs751829413 |
| scholar | rs751829413 |
| rs751829413 | |
| pharmgkb | rs751829413 |
| gwascentral | rs751829413 |
| openSNP | rs751829413 |
| 23andMe | rs751829413 |
| SNPshot | rs751829413 |
| SNPdbe | rs751829413 |
| MSV3d | rs751829413 |
| GWAS Ctlg | rs751829413 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs751829413(C;C) |
| Alt | rs751829413(C;C) |
| Reference | Rs751829413(A;A) |
| Significance | Pathogenic |
| Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| Variation | info |
| Gene | DLSTP1 ACADM |
| CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.76211500A>C |
| CLNSRC | |
| CLNACC | RCV000211450.1, |
