rs111257462
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111257462(C;C) |
| Make rs111257462(C;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 107891290 |
| Gene | DLD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111257462 |
| dbSNP (classic) | rs111257462 |
| ClinGen | rs111257462 |
| ebi | rs111257462 |
| HLI | rs111257462 |
| Exac | rs111257462 |
| Gnomad | rs111257462 |
| Varsome | rs111257462 |
| LitVar | rs111257462 |
| Map | rs111257462 |
| PheGenI | rs111257462 |
| Biobank | rs111257462 |
| 1000 genomes | rs111257462 |
| hgdp | rs111257462 |
| ensembl | rs111257462 |
| geneview | rs111257462 |
| scholar | rs111257462 |
| rs111257462 | |
| pharmgkb | rs111257462 |
| gwascentral | rs111257462 |
| openSNP | rs111257462 |
| 23andMe | rs111257462 |
| SNPshot | rs111257462 |
| SNPdbe | rs111257462 |
| MSV3d | rs111257462 |
| GWAS Ctlg | rs111257462 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111257462(A;A) rs111257462(C;C) |
| Alt | rs111257462(A;A) rs111257462(C;C) |
| Reference | Rs111257462(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Maple syrup urine disease |
| Variation | info |
| Gene | DLD |
| CLNDBN | Maple syrup urine disease, type 3 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107531735G>A |
| CLNSRC | |
| CLNACC | RCV000411628.1, |
