rs149766077
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs149766077(C;T) |
| Make rs149766077(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 6 |
| Position | 80168944 |
| Gene | BCKDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149766077 |
| dbSNP (classic) | rs149766077 |
| ClinGen | rs149766077 |
| ebi | rs149766077 |
| HLI | rs149766077 |
| Exac | rs149766077 |
| Gnomad | rs149766077 |
| Varsome | rs149766077 |
| LitVar | rs149766077 |
| Map | rs149766077 |
| PheGenI | rs149766077 |
| Biobank | rs149766077 |
| 1000 genomes | rs149766077 |
| hgdp | rs149766077 |
| ensembl | rs149766077 |
| geneview | rs149766077 |
| scholar | rs149766077 |
| rs149766077 | |
| pharmgkb | rs149766077 |
| gwascentral | rs149766077 |
| openSNP | rs149766077 |
| 23andMe | rs149766077 |
| SNPshot | rs149766077 |
| SNPdbe | rs149766077 |
| MSV3d | rs149766077 |
| GWAS Ctlg | rs149766077 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149766077(G;G) rs149766077(T;T) |
| Alt | rs149766077(G;G) rs149766077(T;T) |
| Reference | Rs149766077(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Maple syrup urine disease |
| Variation | info |
| Gene | BCKDHB |
| CLNDBN | not provided Maple syrup urine disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.80878661C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000082753.3, RCV000179039.2, |
