| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 3 | NC_000003.12:g.140290378A>G |
| GRCh37.p13 chr 3 | NC_000003.11:g.140009220A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CLSTN2 transcript | NM_022131.2:c. | N/A | Intron Variant |
| CLSTN2 transcript variant X1 | XM_017007022.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.828 | G=0.172 |
| 1000Genomes | American | Sub | 694 | A=0.970 | G=0.030 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.971 | G=0.029 |
| 1000Genomes | Europe | Sub | 1006 | A=0.989 | G=0.011 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.926 | G=0.074 |
| 1000Genomes | South Asian | Sub | 978 | A=0.910 | G=0.090 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.984 | G=0.016 |
| The Genome Aggregation Database | African | Sub | 8712 | A=0.861 | G=0.139 |
| The Genome Aggregation Database | American | Sub | 838 | A=0.990 | G=0.010 |
| The Genome Aggregation Database | East Asian | Sub | 1610 | A=0.958 | G=0.042 |
| The Genome Aggregation Database | Europe | Sub | 18498 | A=0.987 | G=0.012 |
| The Genome Aggregation Database | Global | Study-wide | 29960 | A=0.949 | G=0.051 |
| The Genome Aggregation Database | Other | Sub | 302 | A=0.970 | G=0.030 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.928 | G=0.071 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.989 | G=0.011 |
| 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 |
|---|---|---|---|
| rs6439914 | 0.000796 | 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 ) |
|---|---|---|---|---|
| chr3 | 139967989 | 139968043 | E068 | -41177 |
| chr3 | 139968084 | 139968314 | E068 | -40906 |
| chr3 | 139969769 | 139970083 | E071 | -39137 |
| chr3 | 139967989 | 139968043 | E072 | -41177 |
| chr3 | 139968084 | 139968314 | E072 | -40906 |
| chr3 | 140018762 | 140018954 | E081 | 9542 |
| chr3 | 140034136 | 140034296 | E081 | 24916 |
| chr3 | 140034873 | 140035408 | E081 | 25653 |
| chr3 | 140055304 | 140055680 | E081 | 46084 |
| chr3 | 140055868 | 140056285 | E081 | 46648 |
| chr3 | 140018762 | 140018954 | E082 | 9542 |
| chr3 | 140034873 | 140035408 | E082 | 25653 |