| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.101335504A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.101729282A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UTP20 transcript | NM_014503.2:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.900 | G=0.100 |
| 1000Genomes | American | Sub | 694 | A=0.700 | G=0.300 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.625 | G=0.375 |
| 1000Genomes | Europe | Sub | 1006 | A=0.770 | G=0.230 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.762 | G=0.238 |
| 1000Genomes | South Asian | Sub | 978 | A=0.750 | G=0.250 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.775 | G=0.225 |
| The Genome Aggregation Database | African | Sub | 8716 | A=0.882 | G=0.118 |
| The Genome Aggregation Database | American | Sub | 832 | A=0.680 | G=0.320 |
| The Genome Aggregation Database | East Asian | Sub | 1612 | A=0.643 | G=0.357 |
| The Genome Aggregation Database | Europe | Sub | 18464 | A=0.776 | G=0.223 |
| The Genome Aggregation Database | Global | Study-wide | 29926 | A=0.797 | G=0.203 |
| The Genome Aggregation Database | Other | Sub | 302 | A=0.740 | G=0.260 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.803 | G=0.196 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.773 | G=0.227 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 24962325 | Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. | Kapoor M | Drug Alcohol Depend |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs1814577 | 5.21E-08 | alcohol dependence (age at onset) | 24962325 |
| 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 | 101691390 | 101691641 | E067 | -37641 |
| chr12 | 101692002 | 101692211 | E067 | -37071 |
| chr12 | 101692243 | 101692491 | E067 | -36791 |
| chr12 | 101692002 | 101692211 | E069 | -37071 |
| chr12 | 101692243 | 101692491 | E069 | -36791 |
| chr12 | 101684127 | 101684167 | E071 | -45115 |
| chr12 | 101691390 | 101691641 | E071 | -37641 |
| chr12 | 101691390 | 101691641 | E072 | -37641 |
| chr12 | 101692002 | 101692211 | E072 | -37071 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 101692853 | 101693016 | E067 | -36266 |
| chr12 | 101693076 | 101693399 | E067 | -35883 |
| chr12 | 101693724 | 101694082 | E067 | -35200 |
| chr12 | 101692853 | 101693016 | E068 | -36266 |
| chr12 | 101693076 | 101693399 | E068 | -35883 |
| chr12 | 101692853 | 101693016 | E069 | -36266 |
| chr12 | 101693076 | 101693399 | E069 | -35883 |
| chr12 | 101693724 | 101694082 | E069 | -35200 |
| chr12 | 101692853 | 101693016 | E071 | -36266 |
| chr12 | 101693076 | 101693399 | E071 | -35883 |
| chr12 | 101693724 | 101694082 | E071 | -35200 |
| chr12 | 101692853 | 101693016 | E072 | -36266 |
| chr12 | 101693076 | 101693399 | E072 | -35883 |
| chr12 | 101692853 | 101693016 | E074 | -36266 |
| chr12 | 101693076 | 101693399 | E074 | -35883 |
| chr12 | 101693724 | 101694082 | E074 | -35200 |