rs773048903
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs773048903(A;A) |
| Make rs773048903(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 41414149 |
| Gene | BCKDHA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773048903 |
| dbSNP (classic) | rs773048903 |
| ClinGen | rs773048903 |
| ebi | rs773048903 |
| HLI | rs773048903 |
| Exac | rs773048903 |
| Gnomad | rs773048903 |
| Varsome | rs773048903 |
| LitVar | rs773048903 |
| Map | rs773048903 |
| PheGenI | rs773048903 |
| Biobank | rs773048903 |
| 1000 genomes | rs773048903 |
| hgdp | rs773048903 |
| ensembl | rs773048903 |
| geneview | rs773048903 |
| scholar | rs773048903 |
| rs773048903 | |
| pharmgkb | rs773048903 |
| gwascentral | rs773048903 |
| openSNP | rs773048903 |
| 23andMe | rs773048903 |
| SNPshot | rs773048903 |
| SNPdbe | rs773048903 |
| MSV3d | rs773048903 |
| GWAS Ctlg | rs773048903 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs773048903(A;A) |
| Alt | rs773048903(A;A) |
| Reference | Rs773048903(G;G) |
| Significance | Pathogenic |
| Disease | Maple syrup urine disease |
| Variation | info |
| Gene | BCKDHA |
| CLNDBN | Maple syrup urine disease |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41920054G>A |
| CLNSRC | |
| CLNACC | RCV000209016.1, |
