rs200327983
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs200327983(A;C) |
| Make rs200327983(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15644902 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200327983 |
| dbSNP (classic) | rs200327983 |
| ClinGen | rs200327983 |
| ebi | rs200327983 |
| HLI | rs200327983 |
| Exac | rs200327983 |
| Gnomad | rs200327983 |
| Varsome | rs200327983 |
| LitVar | rs200327983 |
| Map | rs200327983 |
| PheGenI | rs200327983 |
| Biobank | rs200327983 |
| 1000 genomes | rs200327983 |
| hgdp | rs200327983 |
| ensembl | rs200327983 |
| geneview | rs200327983 |
| scholar | rs200327983 |
| rs200327983 | |
| pharmgkb | rs200327983 |
| gwascentral | rs200327983 |
| openSNP | rs200327983 |
| 23andMe | rs200327983 |
| SNPshot | rs200327983 |
| SNPdbe | rs200327983 |
| MSV3d | rs200327983 |
| GWAS Ctlg | rs200327983 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200327983(C;C) |
| Alt | rs200327983(C;C) |
| Reference | Rs200327983(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.15686409A>C |
| CLNSRC | ARUP BTD |
| CLNACC | RCV000022033.1, RCV000278976.1, |
