Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 8 | NC_000008.11:g.23753286T>G |
GRCh37.p13 chr 8 | NC_000008.10:g.23610799T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC107986930 transcript variant X3 | XR_001745842.1:n. | N/A | Intron Variant |
LOC107986930 transcript variant X1 | XR_001745840.1:n. | N/A | Genic Downstream Transcript Variant |
LOC107986930 transcript variant X2 | XR_001745841.1:n. | N/A | Genic Downstream Transcript Variant |
LOC107986930 transcript variant X4 | XR_001745843.1:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.713 | G=0.287 |
1000Genomes | American | Sub | 694 | T=0.780 | G=0.220 |
1000Genomes | East Asian | Sub | 1008 | T=0.889 | G=0.111 |
1000Genomes | Europe | Sub | 1006 | T=0.742 | G=0.258 |
1000Genomes | Global | Study-wide | 5008 | T=0.761 | G=0.239 |
1000Genomes | South Asian | Sub | 978 | T=0.700 | G=0.300 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.760 | G=0.240 |
The Genome Aggregation Database | African | Sub | 8710 | T=0.730 | G=0.270 |
The Genome Aggregation Database | American | Sub | 836 | T=0.820 | G=0.180 |
The Genome Aggregation Database | East Asian | Sub | 1616 | T=0.881 | G=0.119 |
The Genome Aggregation Database | Europe | Sub | 18462 | T=0.771 | G=0.228 |
The Genome Aggregation Database | Global | Study-wide | 29926 | T=0.766 | G=0.233 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.730 | G=0.270 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.743 | G=0.257 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.766 | G=0.234 |
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 |
---|---|---|---|
rs1561105 | 0.00094 | 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 |
---|---|---|---|---|
cg21590108 | chr8:23609057 | 0.0717113398425612 | 1.0021e-18 |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr8 | 23618552 | 23618602 | E071 | 7753 |
chr8 | 23595478 | 23595577 | E081 | -15222 |