rs764826805
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 rs764826805(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 101429754 |
| Gene | ALDOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764826805 |
| dbSNP (classic) | rs764826805 |
| ClinGen | rs764826805 |
| ebi | rs764826805 |
| HLI | rs764826805 |
| Exac | rs764826805 |
| Gnomad | rs764826805 |
| Varsome | rs764826805 |
| LitVar | rs764826805 |
| Map | rs764826805 |
| PheGenI | rs764826805 |
| Biobank | rs764826805 |
| 1000 genomes | rs764826805 |
| hgdp | rs764826805 |
| ensembl | rs764826805 |
| geneview | rs764826805 |
| scholar | rs764826805 |
| rs764826805 | |
| pharmgkb | rs764826805 |
| gwascentral | rs764826805 |
| openSNP | rs764826805 |
| 23andMe | rs764826805 |
| SNPshot | rs764826805 |
| SNPdbe | rs764826805 |
| MSV3d | rs764826805 |
| GWAS Ctlg | rs764826805 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs764826805(T;T) |
| Alt | rs764826805(T;T) |
| Reference | Rs764826805(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary fructosuria |
| Variation | info |
| Gene | ALDOB |
| CLNDBN | Hereditary fructosuria |
| Reversed | 0 |
| HGVS | NC_000009.11:g.104192036C>T |
| CLNSRC | |
| CLNACC | RCV000202622.1, |
