rs750026492
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs750026492(C;T) |
| Make rs750026492(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 101429755 |
| Gene | ALDOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs750026492 |
| dbSNP (classic) | rs750026492 |
| ClinGen | rs750026492 |
| ebi | rs750026492 |
| HLI | rs750026492 |
| Exac | rs750026492 |
| Gnomad | rs750026492 |
| Varsome | rs750026492 |
| LitVar | rs750026492 |
| Map | rs750026492 |
| PheGenI | rs750026492 |
| Biobank | rs750026492 |
| 1000 genomes | rs750026492 |
| hgdp | rs750026492 |
| ensembl | rs750026492 |
| geneview | rs750026492 |
| scholar | rs750026492 |
| rs750026492 | |
| pharmgkb | rs750026492 |
| gwascentral | rs750026492 |
| openSNP | rs750026492 |
| 23andMe | rs750026492 |
| SNPshot | rs750026492 |
| SNPdbe | rs750026492 |
| MSV3d | rs750026492 |
| GWAS Ctlg | rs750026492 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs750026492(T;T) |
| Alt | rs750026492(T;T) |
| Reference | Rs750026492(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary fructosuria |
| Variation | info |
| Gene | ALDOB |
| CLNDBN | Hereditary fructosuria |
| Reversed | 0 |
| HGVS | NC_000009.11:g.104192037C>T |
| CLNSRC | |
| CLNACC | RCV000169107.1, |
