| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 4 | NC_000004.12:g.99329813C>A |
| GRCh37.p13 chr 4 | NC_000004.11:g.100250970C>A |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | C=0.518 | A=0.482 |
| 1000Genomes | American | Sub | 694 | C=0.830 | A=0.170 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.236 | A=0.764 |
| 1000Genomes | Europe | Sub | 1006 | C=0.769 | A=0.231 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.532 | A=0.468 |
| 1000Genomes | South Asian | Sub | 978 | C=0.400 | A=0.600 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.751 | A=0.249 |
| The Genome Aggregation Database | African | Sub | 8712 | C=0.554 | A=0.446 |
| The Genome Aggregation Database | American | Sub | 836 | C=0.860 | A=0.140 |
| The Genome Aggregation Database | East Asian | Sub | 1612 | C=0.269 | A=0.731 |
| The Genome Aggregation Database | Europe | Sub | 18472 | C=0.787 | A=0.212 |
| The Genome Aggregation Database | Global | Study-wide | 29934 | C=0.694 | A=0.305 |
| The Genome Aggregation Database | Other | Sub | 302 | C=0.810 | A=0.190 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.661 | A=0.339 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.778 | A=0.222 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 24166409 | Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. | Gelernter J | Mol Psychiatry |
| 20089146 | The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history. | Peng Y | BMC Evol Biol |
| 25035082 | XRCC5 as a risk gene for alcohol dependence: evidence from a genome-wide gene-set-based analysis and follow-up studies in Drosophila and humans. | Juraeva D | Neuropsychopharmacology |
| 24889829 | Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes. | Zhang H | Hum Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs2173201 | 1.00E-10 | alcohol dependence | 24166409 |
| rs2173201 | 1.00E-07 | alcohol dependence | 24166409 |
| rs2173201 | 2.00E-06 | alcohol dependence | 24166409 |
| rs2173201 | 5.00E-06 | alcohol dependence | 24166409 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr4:100250970 | ADH1C | ENSG00000248144.1 | C>A | 2.6414e-5 | -23214 | Caudate_basal_ganglia |
| 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 ) |
|---|---|---|---|---|
| chr4 | 100245602 | 100245886 | E068 | -5084 |
| chr4 | 100221669 | 100221897 | E070 | -29073 |
| chr4 | 100244954 | 100245162 | E073 | -5808 |
| chr4 | 100245344 | 100245493 | E073 | -5477 |
| chr4 | 100221669 | 100221897 | E082 | -29073 |
| chr4 | 100222048 | 100222444 | E082 | -28526 |