| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.91930196A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.92323972A>G |
| 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 | A=0.242 | G=0.758 |
| 1000Genomes | American | Sub | 694 | A=0.540 | G=0.460 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.724 | G=0.276 |
| 1000Genomes | Europe | Sub | 1006 | A=0.586 | G=0.414 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.489 | G=0.511 |
| 1000Genomes | South Asian | Sub | 978 | A=0.440 | G=0.560 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.599 | G=0.401 |
| The Genome Aggregation Database | African | Sub | 8702 | A=0.276 | G=0.724 |
| The Genome Aggregation Database | American | Sub | 836 | A=0.570 | G=0.430 |
| The Genome Aggregation Database | East Asian | Sub | 1590 | A=0.704 | G=0.296 |
| The Genome Aggregation Database | Europe | Sub | 18458 | A=0.610 | G=0.389 |
| The Genome Aggregation Database | Global | Study-wide | 29888 | A=0.516 | G=0.483 |
| The Genome Aggregation Database | Other | Sub | 302 | A=0.600 | G=0.400 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.453 | G=0.546 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.611 | G=0.389 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| 23691058 | Dosage transmission disequilibrium test (dTDT) for linkage and association detection. | Zhang Z | PLoS One |
| 17357082 | Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. | Melquist S | Am J Hum Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs12427267 | 0.0000006 | alcohol dependence | 23691058 |
| rs12427267 | 0.00024 | alcohol dependence | 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 | -38705 |
| chr12 | 92285612 | 92285704 | E070 | -38268 |
| chr12 | 92285769 | 92286134 | E070 | -37838 |
| chr12 | 92286204 | 92286429 | E070 | -37543 |
| chr12 | 92286494 | 92286710 | E070 | -37262 |
| chr12 | 92290484 | 92291024 | E070 | -32948 |
| chr12 | 92291102 | 92291152 | E070 | -32820 |
| chr12 | 92278137 | 92278506 | E081 | -45466 |
| chr12 | 92285769 | 92286134 | E081 | -37838 |
| chr12 | 92286204 | 92286429 | E081 | -37543 |
| chr12 | 92286494 | 92286710 | E081 | -37262 |
| chr12 | 92291102 | 92291152 | E081 | -32820 |
| chr12 | 92285769 | 92286134 | E082 | -37838 |
| chr12 | 92286204 | 92286429 | E082 | -37543 |