rs397514357
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a biotinidase deficiency mutation |
| (C;C) | 0 | common in clinvar |
| Make rs397514357(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15642022 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514357 |
| dbSNP (classic) | rs397514357 |
| ClinGen | rs397514357 |
| ebi | rs397514357 |
| HLI | rs397514357 |
| Exac | rs397514357 |
| Gnomad | rs397514357 |
| Varsome | rs397514357 |
| LitVar | rs397514357 |
| Map | rs397514357 |
| PheGenI | rs397514357 |
| Biobank | rs397514357 |
| 1000 genomes | rs397514357 |
| hgdp | rs397514357 |
| ensembl | rs397514357 |
| geneview | rs397514357 |
| scholar | rs397514357 |
| rs397514357 | |
| pharmgkb | rs397514357 |
| gwascentral | rs397514357 |
| openSNP | rs397514357 |
| 23andMe | rs397514357 |
| SNPshot | rs397514357 |
| SNPdbe | rs397514357 |
| MSV3d | rs397514357 |
| GWAS Ctlg | rs397514357 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs397514357(A;A) |
| Alt | rs397514357(A;A) |
| Reference | Rs397514357(C;C) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not provided |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15683529C>A |
| CLNSRC | ARUP BTD |
| CLNACC | RCV000021923.1, RCV000438885.1, |
