Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.144701195A>G |
GRCh37.p13 chr 2 | NC_000002.11:g.145458762A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TEX41 transcript | NR_033870.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.599 | G=0.401 |
1000Genomes | American | Sub | 694 | A=0.280 | G=0.720 |
1000Genomes | East Asian | Sub | 1008 | A=0.221 | G=0.779 |
1000Genomes | Europe | Sub | 1006 | A=0.351 | G=0.649 |
1000Genomes | Global | Study-wide | 5008 | A=0.373 | G=0.627 |
1000Genomes | South Asian | Sub | 978 | A=0.310 | G=0.690 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.335 | G=0.665 |
The Genome Aggregation Database | African | Sub | 8692 | A=0.552 | G=0.448 |
The Genome Aggregation Database | American | Sub | 836 | A=0.230 | G=0.770 |
The Genome Aggregation Database | East Asian | Sub | 1578 | A=0.195 | G=0.805 |
The Genome Aggregation Database | Europe | Sub | 18452 | A=0.349 | G=0.650 |
The Genome Aggregation Database | Global | Study-wide | 29860 | A=0.397 | G=0.603 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.330 | G=0.670 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.405 | G=0.594 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.330 | G=0.670 |
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 |
---|---|---|---|
rs10496966 | 0.000804 | 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 ) |
---|---|---|---|---|
chr2 | 145439933 | 145440509 | E067 | -18253 |
chr2 | 145440773 | 145440906 | E067 | -17856 |
chr2 | 145465725 | 145465850 | E067 | 6963 |
chr2 | 145465725 | 145465850 | E068 | 6963 |
chr2 | 145465725 | 145465850 | E069 | 6963 |
chr2 | 145466243 | 145466529 | E069 | 7481 |
chr2 | 145465725 | 145465850 | E070 | 6963 |
chr2 | 145465366 | 145465700 | E071 | 6604 |
chr2 | 145466243 | 145466529 | E071 | 7481 |
chr2 | 145465725 | 145465850 | E072 | 6963 |
chr2 | 145466243 | 145466529 | E072 | 7481 |
chr2 | 145465366 | 145465700 | E074 | 6604 |
chr2 | 145465725 | 145465850 | E074 | 6963 |
chr2 | 145466243 | 145466529 | E074 | 7481 |
chr2 | 145469196 | 145469276 | E081 | 10434 |
chr2 | 145469357 | 145469673 | E081 | 10595 |
chr2 | 145469778 | 145470030 | E081 | 11016 |
chr2 | 145465366 | 145465700 | E082 | 6604 |
chr2 | 145465725 | 145465850 | E082 | 6963 |