rs145078268
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a hereditary fructose intolerance mutation |
| Make rs145078268(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 101424931 |
| Gene | ALDOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145078268 |
| dbSNP (classic) | rs145078268 |
| ClinGen | rs145078268 |
| ebi | rs145078268 |
| HLI | rs145078268 |
| Exac | rs145078268 |
| Gnomad | rs145078268 |
| Varsome | rs145078268 |
| LitVar | rs145078268 |
| Map | rs145078268 |
| PheGenI | rs145078268 |
| Biobank | rs145078268 |
| 1000 genomes | rs145078268 |
| hgdp | rs145078268 |
| ensembl | rs145078268 |
| geneview | rs145078268 |
| scholar | rs145078268 |
| rs145078268 | |
| pharmgkb | rs145078268 |
| gwascentral | rs145078268 |
| openSNP | rs145078268 |
| 23andMe | rs145078268 |
| SNPshot | rs145078268 |
| SNPdbe | rs145078268 |
| MSV3d | rs145078268 |
| GWAS Ctlg | rs145078268 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs145078268(G;G) rs145078268(T;T) |
| Alt | rs145078268(G;G) rs145078268(T;T) |
| Reference | Rs145078268(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary fructosuria |
| Variation | info |
| Gene | ALDOB |
| CLNDBN | Hereditary fructosuria |
| Reversed | 0 |
| HGVS | NC_000009.11:g.104187213C>T |
| CLNSRC | |
| CLNACC | RCV000477962.1, |
