rs373249212
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs373249212(G;T) |
| Make rs373249212(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 15635689 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373249212 |
| dbSNP (classic) | rs373249212 |
| ClinGen | rs373249212 |
| ebi | rs373249212 |
| HLI | rs373249212 |
| Exac | rs373249212 |
| Gnomad | rs373249212 |
| Varsome | rs373249212 |
| LitVar | rs373249212 |
| Map | rs373249212 |
| PheGenI | rs373249212 |
| Biobank | rs373249212 |
| 1000 genomes | rs373249212 |
| hgdp | rs373249212 |
| ensembl | rs373249212 |
| geneview | rs373249212 |
| scholar | rs373249212 |
| rs373249212 | |
| pharmgkb | rs373249212 |
| gwascentral | rs373249212 |
| openSNP | rs373249212 |
| 23andMe | rs373249212 |
| SNPshot | rs373249212 |
| SNPdbe | rs373249212 |
| MSV3d | rs373249212 |
| GWAS Ctlg | rs373249212 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373249212(A;A) rs373249212(T;T) |
| Alt | rs373249212(A;A) rs373249212(T;T) |
| Reference | Rs373249212(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Biotinidase deficiency |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15677196G>T |
| CLNSRC | |
| CLNACC | RCV000409760.1, |
