rs201023772
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs201023772(A;G) |
| Make rs201023772(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15645061 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201023772 |
| dbSNP (classic) | rs201023772 |
| ClinGen | rs201023772 |
| ebi | rs201023772 |
| HLI | rs201023772 |
| Exac | rs201023772 |
| Gnomad | rs201023772 |
| Varsome | rs201023772 |
| LitVar | rs201023772 |
| Map | rs201023772 |
| PheGenI | rs201023772 |
| Biobank | rs201023772 |
| 1000 genomes | rs201023772 |
| hgdp | rs201023772 |
| ensembl | rs201023772 |
| geneview | rs201023772 |
| scholar | rs201023772 |
| rs201023772 | |
| pharmgkb | rs201023772 |
| gwascentral | rs201023772 |
| openSNP | rs201023772 |
| 23andMe | rs201023772 |
| SNPshot | rs201023772 |
| SNPdbe | rs201023772 |
| MSV3d | rs201023772 |
| GWAS Ctlg | rs201023772 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201023772(G;G) |
| Alt | rs201023772(G;G) |
| Reference | Rs201023772(A;A) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not specified |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15686568A>G |
| CLNSRC | ARUP BTD |
| CLNACC | RCV000021987.1, RCV000405919.1, |
