rs768832921
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common in clinvar |
| Make rs768832921(-;-) |
| Make rs768832921(-;AT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 100240860 |
| Gene | DBT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768832921 |
| dbSNP (classic) | rs768832921 |
| ClinGen | rs768832921 |
| ebi | rs768832921 |
| HLI | rs768832921 |
| Exac | rs768832921 |
| Gnomad | rs768832921 |
| Varsome | rs768832921 |
| LitVar | rs768832921 |
| Map | rs768832921 |
| PheGenI | rs768832921 |
| Biobank | rs768832921 |
| 1000 genomes | rs768832921 |
| hgdp | rs768832921 |
| ensembl | rs768832921 |
| geneview | rs768832921 |
| scholar | rs768832921 |
| rs768832921 | |
| pharmgkb | rs768832921 |
| gwascentral | rs768832921 |
| openSNP | rs768832921 |
| 23andMe | rs768832921 |
| SNPshot | rs768832921 |
| SNPdbe | rs768832921 |
| MSV3d | rs768832921 |
| GWAS Ctlg | rs768832921 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs768832921(-;-) |
| Alt | rs768832921(-;-) |
| Reference | Rs768832921(AT;AT) |
| Significance | Pathogenic |
| Disease | Maple syrup urine disease type 2 |
| Variation | info |
| Gene | DBT |
| CLNDBN | Maple syrup urine disease type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.100706416_100706417delAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012728.24, |
