rs2228093
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 3 | Associated with alcohol-induced hypersensitivity reactions |
| Make rs2228093(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 38396005 |
| Gene | ALDH1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228093 |
| dbSNP (classic) | rs2228093 |
| ClinGen | rs2228093 |
| ebi | rs2228093 |
| HLI | rs2228093 |
| Exac | rs2228093 |
| Gnomad | rs2228093 |
| Varsome | rs2228093 |
| LitVar | rs2228093 |
| Map | rs2228093 |
| PheGenI | rs2228093 |
| Biobank | rs2228093 |
| 1000 genomes | rs2228093 |
| hgdp | rs2228093 |
| ensembl | rs2228093 |
| geneview | rs2228093 |
| scholar | rs2228093 |
| rs2228093 | |
| pharmgkb | rs2228093 |
| gwascentral | rs2228093 |
| openSNP | rs2228093 |
| 23andMe | rs2228093 |
| SNPshot | rs2228093 |
| SNPdbe | rs2228093 |
| MSV3d | rs2228093 |
| GWAS Ctlg | rs2228093 |
| GMAF | 0.2222 |
| Max Magnitude | 3 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20205700] Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians
[PMID 20700531
] The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.
| ClinVar | |
|---|---|
| Risk | Rs2228093(T;T) |
| Alt | Rs2228093(T;T) |
| Reference | Rs2228093(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | ALDH1B1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.38396002C>T |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000123606.1, |
