rs146011150
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs146011150(A;G) |
| Make rs146011150(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15635507 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146011150 |
| dbSNP (classic) | rs146011150 |
| ClinGen | rs146011150 |
| ebi | rs146011150 |
| HLI | rs146011150 |
| Exac | rs146011150 |
| Gnomad | rs146011150 |
| Varsome | rs146011150 |
| LitVar | rs146011150 |
| Map | rs146011150 |
| PheGenI | rs146011150 |
| Biobank | rs146011150 |
| 1000 genomes | rs146011150 |
| hgdp | rs146011150 |
| ensembl | rs146011150 |
| geneview | rs146011150 |
| scholar | rs146011150 |
| rs146011150 | |
| pharmgkb | rs146011150 |
| gwascentral | rs146011150 |
| openSNP | rs146011150 |
| 23andMe | rs146011150 |
| SNPshot | rs146011150 |
| SNPdbe | rs146011150 |
| MSV3d | rs146011150 |
| GWAS Ctlg | rs146011150 |
| Max Magnitude | 0 |
minor allele should be reclassified as benign according to [PMID 26990548
]
| ClinVar | |
|---|---|
| Risk | rs146011150(G;G) |
| Alt | rs146011150(G;G) |
| Reference | Rs146011150(A;A) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15677014A>G |
| CLNSRC | ARUP BTD |
| CLNACC | RCV000022030.1, |
