rs760538465
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs760538465(A;A) |
| Make rs760538465(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 80201032 |
| Gene | BCKDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760538465 |
| dbSNP (classic) | rs760538465 |
| ClinGen | rs760538465 |
| ebi | rs760538465 |
| HLI | rs760538465 |
| Exac | rs760538465 |
| Gnomad | rs760538465 |
| Varsome | rs760538465 |
| LitVar | rs760538465 |
| Map | rs760538465 |
| PheGenI | rs760538465 |
| Biobank | rs760538465 |
| 1000 genomes | rs760538465 |
| hgdp | rs760538465 |
| ensembl | rs760538465 |
| geneview | rs760538465 |
| scholar | rs760538465 |
| rs760538465 | |
| pharmgkb | rs760538465 |
| gwascentral | rs760538465 |
| openSNP | rs760538465 |
| 23andMe | rs760538465 |
| SNPshot | rs760538465 |
| SNPdbe | rs760538465 |
| MSV3d | rs760538465 |
| GWAS Ctlg | rs760538465 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760538465(A;A) rs760538465(T;T) |
| Alt | rs760538465(A;A) rs760538465(T;T) |
| Reference | Rs760538465(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Maple syrup urine disease |
| Variation | info |
| Gene | BCKDHB |
| CLNDBN | Maple syrup urine disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.80910749G>A; NC_000006.11:g.80910749G>T |
| CLNSRC | |
| CLNACC | RCV000411423.1, RCV000411637.1, |
