| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 2 | NC_000002.12:g.56381681G>A |
| GRCh38.p7 chr 2 | NC_000002.12:g.56381681G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.56608816G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.56608816G>T |
| 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=0.787 | A=0.213 |
| 1000Genomes | American | Sub | 694 | G=0.950 | A=0.050 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.914 | A=0.086 |
| 1000Genomes | Europe | Sub | 1006 | G=0.928 | A=0.072 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.884 | A=0.116 |
| 1000Genomes | South Asian | Sub | 978 | G=0.890 | A=0.110 |
| The Genome Aggregation Database | African | Sub | 8712 | G=0.819 | A=0.181 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.970 | A=0.030 |
| The Genome Aggregation Database | East Asian | Sub | 1590 | G=0.905 | A=0.095 |
| The Genome Aggregation Database | Europe | Sub | 18476 | G=0.932 | A=0.067 |
| The Genome Aggregation Database | Global | Study-wide | 29918 | G=0.898 | A=0.101 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.940 | A=0.060 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | G=0.885 | A=0.115 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 24277619 | ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. | Quillen EE | Am J Med Genet B Neuropsychiatr Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs2193488 | 0.000721 | alcohol consumption (maxi-drinks) | 24277619 |
| 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 | 28386522 | 28386799 | E067 | -6157 |
| chr2 | 28386845 | 28387852 | E067 | -5104 |
| chr2 | 28371253 | 28371352 | E068 | -21604 |
| chr2 | 28373021 | 28373124 | E068 | -19832 |
| chr2 | 28386522 | 28386799 | E068 | -6157 |
| chr2 | 28386845 | 28387852 | E068 | -5104 |
| chr2 | 28388030 | 28388375 | E068 | -4581 |
| chr2 | 28394999 | 28395172 | E068 | 2043 |
| chr2 | 28386522 | 28386799 | E069 | -6157 |
| chr2 | 28386845 | 28387852 | E069 | -5104 |
| chr2 | 28345599 | 28345664 | E070 | -47292 |
| chr2 | 28345844 | 28345936 | E070 | -47020 |
| chr2 | 28386522 | 28386799 | E070 | -6157 |
| chr2 | 28386845 | 28387852 | E070 | -5104 |
| chr2 | 28388030 | 28388375 | E070 | -4581 |
| chr2 | 28429785 | 28429951 | E070 | 36829 |
| chr2 | 28439346 | 28439458 | E070 | 46390 |
| chr2 | 28386522 | 28386799 | E071 | -6157 |
| chr2 | 28386845 | 28387852 | E071 | -5104 |
| chr2 | 28429785 | 28429951 | E071 | 36829 |
| chr2 | 28386522 | 28386799 | E072 | -6157 |
| chr2 | 28386845 | 28387852 | E072 | -5104 |
| chr2 | 28439346 | 28439458 | E072 | 46390 |
| chr2 | 28439346 | 28439458 | E073 | 46390 |
| chr2 | 28386522 | 28386799 | E074 | -6157 |
| chr2 | 28386845 | 28387852 | E074 | -5104 |
| chr2 | 28388030 | 28388375 | E074 | -4581 |
| chr2 | 28385391 | 28385849 | E081 | -7107 |
| chr2 | 28386077 | 28386169 | E081 | -6787 |
| chr2 | 28386522 | 28386799 | E081 | -6157 |
| chr2 | 28386845 | 28387852 | E081 | -5104 |
| chr2 | 28388030 | 28388375 | E081 | -4581 |
| chr2 | 28345599 | 28345664 | E082 | -47292 |
| chr2 | 28345844 | 28345936 | E082 | -47020 |
| chr2 | 28416657 | 28416814 | E082 | 23701 |
| chr2 | 28416984 | 28417329 | E082 | 24028 |