| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 1 | NC_000001.11:g.110854293A>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.111396915A>G |
| OR11I1P pseudogene | NG_003221.2:g.295A>G |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.894 | G=0.106 |
| 1000Genomes | American | Sub | 694 | A=0.700 | G=0.300 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.883 | G=0.117 |
| 1000Genomes | Europe | Sub | 1006 | A=0.714 | G=0.286 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.791 | G=0.209 |
| 1000Genomes | South Asian | Sub | 978 | A=0.700 | G=0.300 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.733 | G=0.267 |
| The Genome Aggregation Database | African | Sub | 8700 | A=0.880 | G=0.120 |
| The Genome Aggregation Database | American | Sub | 836 | A=0.690 | G=0.310 |
| The Genome Aggregation Database | East Asian | Sub | 1616 | A=0.878 | G=0.122 |
| The Genome Aggregation Database | Europe | Sub | 18468 | A=0.751 | G=0.248 |
| The Genome Aggregation Database | Global | Study-wide | 29920 | A=0.792 | G=0.207 |
| The Genome Aggregation Database | Other | Sub | 300 | A=0.610 | G=0.390 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.785 | G=0.214 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.726 | G=0.274 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs12730405 | 0.000064 | alcohol dependence(early age of onset) | 20201924 |
| rs12730405 | 0.0000644 | alcoholism | pha002892 |
| rs12730405 | 0.00028 | alcohol dependence | 20201924 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr1:111396915 | CD53 | ENSG00000143119.8 | A>G | 1.5723e-7 | -18860 | Frontal_Cortex_BA9 |
| Chr1:111396915 | CD53 | ENSG00000143119.8 | A>G | 8.9309e-6 | -18860 | Cortex |
| 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 ) |
|---|---|---|---|---|
| chr1 | 111413648 | 111414008 | E074 | 16733 |
| chr1 | 111414054 | 111414126 | E074 | 17139 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr1 | 111416015 | 111416216 | E067 | 19100 |
| chr1 | 111416227 | 111416294 | E067 | 19312 |
| chr1 | 111416347 | 111416913 | E067 | 19432 |
| chr1 | 111416015 | 111416216 | E068 | 19100 |
| chr1 | 111416227 | 111416294 | E068 | 19312 |
| chr1 | 111416347 | 111416913 | E068 | 19432 |
| chr1 | 111416919 | 111417581 | E068 | 20004 |
| chr1 | 111417654 | 111418436 | E068 | 20739 |
| chr1 | 111416347 | 111416913 | E069 | 19432 |
| chr1 | 111415395 | 111415943 | E071 | 18480 |
| chr1 | 111416015 | 111416216 | E071 | 19100 |
| chr1 | 111416227 | 111416294 | E071 | 19312 |
| chr1 | 111416347 | 111416913 | E071 | 19432 |
| chr1 | 111416919 | 111417581 | E071 | 20004 |
| chr1 | 111417654 | 111418436 | E071 | 20739 |
| chr1 | 111418524 | 111418574 | E071 | 21609 |
| chr1 | 111416347 | 111416913 | E072 | 19432 |
| chr1 | 111416919 | 111417581 | E072 | 20004 |
| chr1 | 111417654 | 111418436 | E072 | 20739 |
| chr1 | 111418524 | 111418574 | E072 | 21609 |
| chr1 | 111416015 | 111416216 | E074 | 19100 |
| chr1 | 111416227 | 111416294 | E074 | 19312 |
| chr1 | 111416347 | 111416913 | E074 | 19432 |
| chr1 | 111417654 | 111418436 | E074 | 20739 |
| chr1 | 111418524 | 111418574 | E074 | 21609 |