rs112195009
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs112195009(A;A) |
| Make rs112195009(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15644488 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112195009 |
| dbSNP (classic) | rs112195009 |
| ClinGen | rs112195009 |
| ebi | rs112195009 |
| HLI | rs112195009 |
| Exac | rs112195009 |
| Gnomad | rs112195009 |
| Varsome | rs112195009 |
| LitVar | rs112195009 |
| Map | rs112195009 |
| PheGenI | rs112195009 |
| Biobank | rs112195009 |
| 1000 genomes | rs112195009 |
| hgdp | rs112195009 |
| ensembl | rs112195009 |
| geneview | rs112195009 |
| scholar | rs112195009 |
| rs112195009 | |
| pharmgkb | rs112195009 |
| gwascentral | rs112195009 |
| openSNP | rs112195009 |
| 23andMe | rs112195009 |
| SNPshot | rs112195009 |
| SNPdbe | rs112195009 |
| MSV3d | rs112195009 |
| GWAS Ctlg | rs112195009 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs112195009(A;A) |
| Alt | rs112195009(A;A) |
| Reference | Rs112195009(G;G) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not specified |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15685995G>A |
| CLNSRC | HGMD |
| CLNACC | RCV000021951.1, RCV000078077.4, |
