Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.114266287G>A |
GRCh37.p13 chr 12 | NC_000012.11:g.114704092G>A |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.349 | A=0.651 |
1000Genomes | American | Sub | 694 | G=0.370 | A=0.630 |
1000Genomes | East Asian | Sub | 1008 | G=0.064 | A=0.936 |
1000Genomes | Europe | Sub | 1006 | G=0.590 | A=0.410 |
1000Genomes | Global | Study-wide | 5008 | G=0.352 | A=0.648 |
1000Genomes | South Asian | Sub | 978 | G=0.390 | A=0.610 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.568 | A=0.432 |
The Genome Aggregation Database | African | Sub | 8710 | G=0.365 | A=0.635 |
The Genome Aggregation Database | American | Sub | 836 | G=0.380 | A=0.620 |
The Genome Aggregation Database | East Asian | Sub | 1614 | G=0.073 | A=0.927 |
The Genome Aggregation Database | Europe | Sub | 18432 | G=0.541 | A=0.459 |
The Genome Aggregation Database | Global | Study-wide | 29892 | G=0.460 | A=0.539 |
The Genome Aggregation Database | Other | Sub | 300 | G=0.620 | A=0.380 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.455 | A=0.544 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.576 | A=0.424 |
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 |
---|---|---|---|
rs1920597 | 0.000102 | alcohol consumption (maxi-drinks) | 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 | 114676570 | 114677493 | E068 | -26599 |
chr12 | 114676570 | 114677493 | E071 | -26599 |
chr12 | 114686855 | 114686905 | E071 | -17187 |
chr12 | 114687379 | 114687429 | E071 | -16663 |
chr12 | 114676570 | 114677493 | E072 | -26599 |
chr12 | 114710854 | 114710965 | E081 | 6762 |
chr12 | 114665931 | 114665981 | E082 | -38111 |