rs796052135
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs796052135(A;G) |
| Make rs796052135(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 100207186 |
| Gene | DBT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796052135 |
| dbSNP (classic) | rs796052135 |
| ClinGen | rs796052135 |
| ebi | rs796052135 |
| HLI | rs796052135 |
| Exac | rs796052135 |
| Gnomad | rs796052135 |
| Varsome | rs796052135 |
| LitVar | rs796052135 |
| Map | rs796052135 |
| PheGenI | rs796052135 |
| Biobank | rs796052135 |
| 1000 genomes | rs796052135 |
| hgdp | rs796052135 |
| ensembl | rs796052135 |
| geneview | rs796052135 |
| scholar | rs796052135 |
| rs796052135 | |
| pharmgkb | rs796052135 |
| gwascentral | rs796052135 |
| openSNP | rs796052135 |
| 23andMe | rs796052135 |
| SNPshot | rs796052135 |
| SNPdbe | rs796052135 |
| MSV3d | rs796052135 |
| GWAS Ctlg | rs796052135 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796052135(G;G) |
| Alt | rs796052135(G;G) |
| Reference | Rs796052135(A;A) |
| Significance | Pathogenic |
| Disease | Intermediate maple syrup urine disease type 2 |
| Variation | info |
| Gene | DBT |
| CLNDBN | Intermediate maple syrup urine disease type 2 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.100672742T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012724.17, |
