rs796051938
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CGTA;CGTA) | 0 | common in clinvar |
| Make rs796051938(-;-) |
| Make rs796051938(-;TACG) |
| Make rs796051938(TACG;TACG) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 41422178 |
| Gene | BCKDHA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796051938 |
| dbSNP (classic) | rs796051938 |
| ClinGen | rs796051938 |
| ebi | rs796051938 |
| HLI | rs796051938 |
| Exac | rs796051938 |
| Gnomad | rs796051938 |
| Varsome | rs796051938 |
| LitVar | rs796051938 |
| Map | rs796051938 |
| PheGenI | rs796051938 |
| Biobank | rs796051938 |
| 1000 genomes | rs796051938 |
| hgdp | rs796051938 |
| ensembl | rs796051938 |
| geneview | rs796051938 |
| scholar | rs796051938 |
| rs796051938 | |
| pharmgkb | rs796051938 |
| gwascentral | rs796051938 |
| openSNP | rs796051938 |
| 23andMe | rs796051938 |
| SNPshot | rs796051938 |
| SNPdbe | rs796051938 |
| MSV3d | rs796051938 |
| GWAS Ctlg | rs796051938 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796051938(-;-) |
| Alt | rs796051938(-;-) |
| Reference | Rs796051938(CGTA;CGTA) |
| Significance | Pathogenic |
| Disease | not provided Maple syrup urine disease |
| Variation | info |
| Gene | BCKDHA |
| CLNDBN | not provided Maple syrup urine disease |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41928083_41928086delTACG |
| CLNSRC | |
| CLNACC | RCV000185796.1, RCV000408793.1, |
