| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 2 | NC_000002.12:g.56382236G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.56609371G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CCDC85A transcript variant 2 | NM_001080433.1:c. | N/A | Intron Variant |
| CCDC85A transcript variant X1 | XM_005264125.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.880 | A=0.120 |
| 1000Genomes | American | Sub | 694 | G=0.980 | A=0.020 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.000 | A=0.000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.998 | A=0.002 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.965 | A=0.035 |
| 1000Genomes | South Asian | Sub | 978 | G=1.000 | A=0.000 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | African | Sub | 8712 | G=0.865 | A=0.135 |
| The Genome Aggregation Database | American | Sub | 836 | G=0.990 | A=0.010 |
| The Genome Aggregation Database | East Asian | Sub | 1580 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | Europe | Sub | 18462 | G=0.999 | A=0.000 |
| The Genome Aggregation Database | Global | Study-wide | 29892 | G=0.960 | A=0.039 |
| The Genome Aggregation Database | Other | Sub | 302 | G=1.000 | A=0.000 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | G=0.941 | A=0.058 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=1.000 | A=0.000 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 22096494 | A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study. | Zuo L | PLoS One |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs17047868 | 6E-05 | alcohol dependence | 22096494 |
| 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 ) |
|---|---|---|---|---|
| chr2 | 56575368 | 56575429 | E067 | -33942 |
| chr2 | 56575461 | 56575511 | E067 | -33860 |
| chr2 | 56575513 | 56575903 | E067 | -33468 |
| chr2 | 56575368 | 56575429 | E068 | -33942 |
| chr2 | 56575461 | 56575511 | E068 | -33860 |
| chr2 | 56575513 | 56575903 | E068 | -33468 |
| chr2 | 56575926 | 56576700 | E070 | -32671 |
| chr2 | 56561064 | 56561227 | E071 | -48144 |
| chr2 | 56561812 | 56561900 | E071 | -47471 |
| chr2 | 56561915 | 56562049 | E071 | -47322 |
| chr2 | 56561064 | 56561227 | E073 | -48144 |
| chr2 | 56561812 | 56561900 | E073 | -47471 |
| chr2 | 56561915 | 56562049 | E073 | -47322 |
| chr2 | 56575461 | 56575511 | E073 | -33860 |
| chr2 | 56575513 | 56575903 | E073 | -33468 |
| chr2 | 56575368 | 56575429 | E081 | -33942 |
| chr2 | 56575461 | 56575511 | E081 | -33860 |
| chr2 | 56575513 | 56575903 | E081 | -33468 |
| chr2 | 56575926 | 56576700 | E081 | -32671 |
| chr2 | 56602391 | 56602748 | E081 | -6623 |
| chr2 | 56575368 | 56575429 | E082 | -33942 |
| chr2 | 56575461 | 56575511 | E082 | -33860 |
| chr2 | 56575926 | 56576700 | E082 | -32671 |