rs119478057
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs119478057(C;T) |
| Make rs119478057(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 81264677 |
| Gene | BCO1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119478057 |
| dbSNP (classic) | rs119478057 |
| ClinGen | rs119478057 |
| ebi | rs119478057 |
| HLI | rs119478057 |
| Exac | rs119478057 |
| Gnomad | rs119478057 |
| Varsome | rs119478057 |
| LitVar | rs119478057 |
| Map | rs119478057 |
| PheGenI | rs119478057 |
| Biobank | rs119478057 |
| 1000 genomes | rs119478057 |
| hgdp | rs119478057 |
| ensembl | rs119478057 |
| geneview | rs119478057 |
| scholar | rs119478057 |
| rs119478057 | |
| pharmgkb | rs119478057 |
| gwascentral | rs119478057 |
| openSNP | rs119478057 |
| 23andMe | rs119478057 |
| SNPshot | rs119478057 |
| SNPdbe | rs119478057 |
| MSV3d | rs119478057 |
| GWAS Ctlg | rs119478057 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119478057(A;A) rs119478057(T;T) |
| Alt | rs119478057(A;A) rs119478057(T;T) |
| Reference | Rs119478057(C;C) |
| Significance | Pathogenic |
| Disease | Hypercarotenemia and vitamin a deficiency |
| Variation | info |
| Gene | BCMO1 BCO1 |
| CLNDBN | Hypercarotenemia and vitamin a deficiency, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000016.9:g.81298282C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005038.3, |
