| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.91928782G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.92322558G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC105369901 transcript variant X2 | XR_001749253.1:n. | N/A | Intron Variant |
| LOC105369901 transcript variant X3 | XR_001749254.1:n. | N/A | Intron Variant |
| LOC105369901 transcript variant X4 | XR_001749255.1:n. | N/A | Intron Variant |
| LOC105369901 transcript variant X5 | XR_001749256.1:n. | N/A | Intron Variant |
| LOC105369901 transcript variant X1 | XR_945202.2:n. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.336 | A=0.664 |
| 1000Genomes | American | Sub | 694 | G=0.560 | A=0.440 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.905 | A=0.095 |
| 1000Genomes | Europe | Sub | 1006 | G=0.613 | A=0.387 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.575 | A=0.425 |
| 1000Genomes | South Asian | Sub | 978 | G=0.530 | A=0.470 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.624 | A=0.376 |
| The Genome Aggregation Database | African | Sub | 8716 | G=0.356 | A=0.644 |
| The Genome Aggregation Database | American | Sub | 836 | G=0.580 | A=0.420 |
| The Genome Aggregation Database | East Asian | Sub | 1606 | G=0.881 | A=0.119 |
| The Genome Aggregation Database | Europe | Sub | 18464 | G=0.639 | A=0.360 |
| The Genome Aggregation Database | Global | Study-wide | 29924 | G=0.568 | A=0.431 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.650 | A=0.350 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.513 | A=0.486 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.636 | A=0.364 |
| 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 |
|---|---|---|---|
| rs4499040 | 0.0000657 | alcoholism | pha002892 |
| rs4499040 | 0.000066 | alcohol dependence | 20201924 |
| rs4499040 | 0.0004 | alcohol dependence(Early Onset) | 20201924 |
| 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 | 92285227 | 92285267 | E070 | -37291 |
| chr12 | 92285612 | 92285704 | E070 | -36854 |
| chr12 | 92285769 | 92286134 | E070 | -36424 |
| chr12 | 92286204 | 92286429 | E070 | -36129 |
| chr12 | 92286494 | 92286710 | E070 | -35848 |
| chr12 | 92290484 | 92291024 | E070 | -31534 |
| chr12 | 92291102 | 92291152 | E070 | -31406 |
| chr12 | 92278137 | 92278506 | E081 | -44052 |
| chr12 | 92285769 | 92286134 | E081 | -36424 |
| chr12 | 92286204 | 92286429 | E081 | -36129 |
| chr12 | 92286494 | 92286710 | E081 | -35848 |
| chr12 | 92291102 | 92291152 | E081 | -31406 |
| chr12 | 92285769 | 92286134 | E082 | -36424 |
| chr12 | 92286204 | 92286429 | E082 | -36129 |