rs35034250
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35034250(C;T) |
| Make rs35034250(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15645027 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35034250 |
| dbSNP (classic) | rs35034250 |
| ClinGen | rs35034250 |
| ebi | rs35034250 |
| HLI | rs35034250 |
| Exac | rs35034250 |
| Gnomad | rs35034250 |
| Varsome | rs35034250 |
| LitVar | rs35034250 |
| Map | rs35034250 |
| PheGenI | rs35034250 |
| Biobank | rs35034250 |
| 1000 genomes | rs35034250 |
| hgdp | rs35034250 |
| ensembl | rs35034250 |
| geneview | rs35034250 |
| scholar | rs35034250 |
| rs35034250 | |
| pharmgkb | rs35034250 |
| gwascentral | rs35034250 |
| openSNP | rs35034250 |
| 23andMe | rs35034250 |
| SNPshot | rs35034250 |
| SNPdbe | rs35034250 |
| MSV3d | rs35034250 |
| GWAS Ctlg | rs35034250 |
| GMAF | 0.008724 |
| Max Magnitude | 0 |
Also known as BTD P391S.
According to http://www.arup.utah.edu/database/BTD/BTD_display.php this variant is benign. It has been observed as pathogenic only in combination with other variants.
| ClinVar | |
|---|---|
| Risk | rs35034250(T;T) |
| Alt | rs35034250(T;T) |
| Reference | Rs35034250(C;C) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not specified |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15686534C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000021984.1, RCV000021985.1, RCV000434224.1, |
