| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.25027124G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.25180058G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC645177 transcript | NM_001321724.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.906 | A=0.094 |
| 1000Genomes | American | Sub | 694 | G=0.520 | A=0.480 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.689 | A=0.311 |
| 1000Genomes | Europe | Sub | 1006 | G=0.700 | A=0.300 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.746 | A=0.254 |
| 1000Genomes | South Asian | Sub | 978 | G=0.800 | A=0.200 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.713 | A=0.287 |
| The Genome Aggregation Database | African | Sub | 8652 | G=0.867 | A=0.133 |
| The Genome Aggregation Database | American | Sub | 818 | G=0.520 | A=0.480 |
| The Genome Aggregation Database | East Asian | Sub | 1614 | G=0.695 | A=0.305 |
| The Genome Aggregation Database | Europe | Sub | 18108 | G=0.676 | A=0.324 |
| The Genome Aggregation Database | Global | Study-wide | 29492 | G=0.729 | A=0.270 |
| The Genome Aggregation Database | Other | Sub | 300 | G=0.750 | A=0.250 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.707 | A=0.293 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 24277619 | ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. | Quillen EE | Am J Med Genet B Neuropsychiatr Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs11047768 | 0.000665 | alcohol dependence | 24277619 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
|---|---|---|---|---|---|---|---|
| There is no eQTL annotation for this SNP | |||||||
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
There is no significant Hi-C chromatin interaction data for this SNP.
| Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
|---|---|---|---|---|
| chr12 | 25150427 | 25150509 | E071 | -29549 |
| chr12 | 25178244 | 25178354 | E073 | -1704 |
| chr12 | 25178370 | 25178549 | E073 | -1509 |
| chr12 | 25187415 | 25187465 | E082 | 7357 |
| chr12 | 25187732 | 25187901 | E082 | 7674 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 25207002 | 25208271 | E067 | 26944 |
| chr12 | 25207002 | 25208271 | E068 | 26944 |
| chr12 | 25207002 | 25208271 | E069 | 26944 |
| chr12 | 25206256 | 25206306 | E071 | 26198 |
| chr12 | 25206391 | 25206470 | E071 | 26333 |
| chr12 | 25206594 | 25206644 | E071 | 26536 |
| chr12 | 25206760 | 25206906 | E071 | 26702 |
| chr12 | 25207002 | 25208271 | E071 | 26944 |
| chr12 | 25206256 | 25206306 | E072 | 26198 |
| chr12 | 25206391 | 25206470 | E072 | 26333 |
| chr12 | 25206594 | 25206644 | E072 | 26536 |
| chr12 | 25206760 | 25206906 | E072 | 26702 |
| chr12 | 25207002 | 25208271 | E072 | 26944 |