rs76917243
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier for hereditary fructose intolerance mutation |
| (T;T) | 5 | hereditary fructose intolerance |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 101427498 |
| Gene | ALDOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76917243 |
| dbSNP (classic) | rs76917243 |
| ClinGen | rs76917243 |
| ebi | rs76917243 |
| HLI | rs76917243 |
| Exac | rs76917243 |
| Gnomad | rs76917243 |
| Varsome | rs76917243 |
| LitVar | rs76917243 |
| Map | rs76917243 |
| PheGenI | rs76917243 |
| Biobank | rs76917243 |
| 1000 genomes | rs76917243 |
| hgdp | rs76917243 |
| ensembl | rs76917243 |
| geneview | rs76917243 |
| scholar | rs76917243 |
| rs76917243 | |
| pharmgkb | rs76917243 |
| gwascentral | rs76917243 |
| openSNP | rs76917243 |
| 23andMe | rs76917243 |
| SNPshot | rs76917243 |
| SNPdbe | rs76917243 |
| MSV3d | rs76917243 |
| GWAS Ctlg | rs76917243 |
| GMAF | 0.0009183 |
| Max Magnitude | 5 |
aka c.524C>A (p.Ala175Asp or A175D; sometimes Ala174Asp in older literature); usually considered the second most common ALDOB gene mutation after the most common one, rs1800546
| ClinVar | |
|---|---|
| Risk | Rs76917243(T;T) |
| Alt | Rs76917243(T;T) |
| Reference | Rs76917243(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary fructosuria not provided |
| Variation | info |
| Gene | ALDOB |
| CLNDBN | Hereditary fructosuria not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.104189780G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000494.4, RCV000352944.1, |
