rs371518124
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs371518124(A;A) |
| Make rs371518124(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 80168906 |
| Gene | BCKDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371518124 |
| dbSNP (classic) | rs371518124 |
| ClinGen | rs371518124 |
| ebi | rs371518124 |
| HLI | rs371518124 |
| Exac | rs371518124 |
| Gnomad | rs371518124 |
| Varsome | rs371518124 |
| LitVar | rs371518124 |
| Map | rs371518124 |
| PheGenI | rs371518124 |
| Biobank | rs371518124 |
| 1000 genomes | rs371518124 |
| hgdp | rs371518124 |
| ensembl | rs371518124 |
| geneview | rs371518124 |
| scholar | rs371518124 |
| rs371518124 | |
| pharmgkb | rs371518124 |
| gwascentral | rs371518124 |
| openSNP | rs371518124 |
| 23andMe | rs371518124 |
| SNPshot | rs371518124 |
| SNPdbe | rs371518124 |
| MSV3d | rs371518124 |
| GWAS Ctlg | rs371518124 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs371518124(A;A) rs371518124(C;C) |
| Alt | rs371518124(A;A) rs371518124(C;C) |
| Reference | Rs371518124(G;G) |
| Significance | Other |
| Disease | not provided Maple syrup urine disease not specified |
| Variation | info |
| Gene | BCKDHB |
| CLNDBN | not provided Maple syrup urine disease not specified |
| Reversed | 0 |
| HGVS | NC_000006.11:g.80878623G>A; NC_000006.11:g.80878623G>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000082749.4, RCV000179047.1, RCV000082750.4, |
