Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.200711561A>C |
GRCh38.p7 chr 2 | NC_000002.12:g.200711561A>G |
GRCh37.p13 chr 2 | NC_000002.11:g.201576284A>C |
GRCh37.p13 chr 2 | NC_000002.11:g.201576284A>G |
AOX3P pseudogene | NG_046634.1:g.15939A>C |
AOX3P pseudogene | NG_046634.1:g.15939A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
AOX3P-AOX2P transcript variant B | NR_135011.1:n. | N/A | Intron Variant |
AOX3P-AOX2P transcript variant A | NR_135012.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.554 | C=0.003 |
1000Genomes | American | Sub | 694 | A=0.140 | C=0.00, |
1000Genomes | East Asian | Sub | 1008 | A=0.195 | C=0.000 |
1000Genomes | Europe | Sub | 1006 | A=0.081 | C=0.000 |
1000Genomes | Global | Study-wide | 5008 | A=0.276 | C=0.001 |
1000Genomes | South Asian | Sub | 978 | A=0.280 | C=0.00, |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.090 | G=0.910 |
The Genome Aggregation Database | African | Sub | 8702 | A=0.470 | G=0.526 |
The Genome Aggregation Database | American | Sub | 838 | A=0.110 | G=0.89, |
The Genome Aggregation Database | East Asian | Sub | 1622 | A=0.210 | G=0.790 |
The Genome Aggregation Database | Europe | Sub | 18480 | A=0.089 | G=0.910 |
The Genome Aggregation Database | Global | Study-wide | 29944 | A=0.207 | G=0.791 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.120 | G=0.88, |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.273 | G=0.726 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.093 | G=0.907 |
PMID | Title | Author | Journal |
---|---|---|---|
21529783 | A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. | Heath AC | Biol Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs7563911 | 6.6E-05 | alcoholism (heaviness of drinking) | 21529783 |
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 | 56959913 | 56960666 | E070 | -12146 |
chr2 | 56958787 | 56958952 | E081 | -13860 |
chr2 | 56959379 | 56959604 | E081 | -13208 |
chr2 | 56959913 | 56960666 | E081 | -12146 |