rs367902696
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a biotinidase deficiency mutation |
| (G;G) | 0 | common in clinvar |
| Make rs367902696(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15642041 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367902696 |
| dbSNP (classic) | rs367902696 |
| ClinGen | rs367902696 |
| ebi | rs367902696 |
| HLI | rs367902696 |
| Exac | rs367902696 |
| Gnomad | rs367902696 |
| Varsome | rs367902696 |
| LitVar | rs367902696 |
| Map | rs367902696 |
| PheGenI | rs367902696 |
| Biobank | rs367902696 |
| 1000 genomes | rs367902696 |
| hgdp | rs367902696 |
| ensembl | rs367902696 |
| geneview | rs367902696 |
| scholar | rs367902696 |
| rs367902696 | |
| pharmgkb | rs367902696 |
| gwascentral | rs367902696 |
| openSNP | rs367902696 |
| 23andMe | rs367902696 |
| SNPshot | rs367902696 |
| SNPdbe | rs367902696 |
| MSV3d | rs367902696 |
| GWAS Ctlg | rs367902696 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs367902696(A;A) |
| Alt | rs367902696(A;A) |
| Reference | Rs367902696(G;G) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not provided |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15683548G>A |
| CLNSRC | ARUP BTD |
| CLNACC | RCV000021924.1, RCV000490188.1, |
