| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.101294267C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.101688045C>T |
| 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 | C=0.902 | T=0.098 |
| 1000Genomes | American | Sub | 694 | C=0.740 | T=0.260 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.628 | T=0.372 |
| 1000Genomes | Europe | Sub | 1006 | C=0.795 | T=0.205 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.779 | T=0.221 |
| 1000Genomes | South Asian | Sub | 978 | C=0.780 | T=0.220 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.804 | T=0.196 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.818 | T=0.181 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.801 | T=0.199 |
| 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 |
|---|---|---|---|
| rs11608415 | 5.93E-06 | 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 | 3345 |
| chr12 | 101692002 | 101692211 | E067 | 3957 |
| chr12 | 101692243 | 101692491 | E067 | 4198 |
| chr12 | 101692002 | 101692211 | E069 | 3957 |
| chr12 | 101692243 | 101692491 | E069 | 4198 |
| chr12 | 101684127 | 101684167 | E071 | -3878 |
| chr12 | 101691390 | 101691641 | E071 | 3345 |
| chr12 | 101691390 | 101691641 | E072 | 3345 |
| chr12 | 101692002 | 101692211 | E072 | 3957 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 101673164 | 101673326 | E067 | -14719 |
| chr12 | 101673369 | 101673461 | E067 | -14584 |
| chr12 | 101673570 | 101674315 | E067 | -13730 |
| chr12 | 101674460 | 101674520 | E067 | -13525 |
| chr12 | 101674561 | 101674663 | E067 | -13382 |
| chr12 | 101692853 | 101693016 | E067 | 4808 |
| chr12 | 101693076 | 101693399 | E067 | 5031 |
| chr12 | 101693724 | 101694082 | E067 | 5679 |
| chr12 | 101673164 | 101673326 | E068 | -14719 |
| chr12 | 101673369 | 101673461 | E068 | -14584 |
| chr12 | 101673570 | 101674315 | E068 | -13730 |
| chr12 | 101674460 | 101674520 | E068 | -13525 |
| chr12 | 101674561 | 101674663 | E068 | -13382 |
| chr12 | 101692853 | 101693016 | E068 | 4808 |
| chr12 | 101693076 | 101693399 | E068 | 5031 |
| chr12 | 101673164 | 101673326 | E069 | -14719 |
| chr12 | 101673369 | 101673461 | E069 | -14584 |
| chr12 | 101673570 | 101674315 | E069 | -13730 |
| chr12 | 101674460 | 101674520 | E069 | -13525 |
| chr12 | 101674561 | 101674663 | E069 | -13382 |
| chr12 | 101692853 | 101693016 | E069 | 4808 |
| chr12 | 101693076 | 101693399 | E069 | 5031 |
| chr12 | 101693724 | 101694082 | E069 | 5679 |
| chr12 | 101673164 | 101673326 | E070 | -14719 |
| chr12 | 101673369 | 101673461 | E070 | -14584 |
| chr12 | 101673570 | 101674315 | E070 | -13730 |
| chr12 | 101674460 | 101674520 | E070 | -13525 |
| chr12 | 101674561 | 101674663 | E070 | -13382 |
| chr12 | 101673056 | 101673115 | E071 | -14930 |
| chr12 | 101673121 | 101673150 | E071 | -14895 |
| chr12 | 101673164 | 101673326 | E071 | -14719 |
| chr12 | 101673369 | 101673461 | E071 | -14584 |
| chr12 | 101673570 | 101674315 | E071 | -13730 |
| chr12 | 101674460 | 101674520 | E071 | -13525 |
| chr12 | 101674561 | 101674663 | E071 | -13382 |
| chr12 | 101692853 | 101693016 | E071 | 4808 |
| chr12 | 101693076 | 101693399 | E071 | 5031 |
| chr12 | 101693724 | 101694082 | E071 | 5679 |
| chr12 | 101673164 | 101673326 | E072 | -14719 |
| chr12 | 101673369 | 101673461 | E072 | -14584 |
| chr12 | 101673570 | 101674315 | E072 | -13730 |
| chr12 | 101674460 | 101674520 | E072 | -13525 |
| chr12 | 101674561 | 101674663 | E072 | -13382 |
| chr12 | 101692853 | 101693016 | E072 | 4808 |
| chr12 | 101693076 | 101693399 | E072 | 5031 |
| chr12 | 101673164 | 101673326 | E073 | -14719 |
| chr12 | 101673369 | 101673461 | E073 | -14584 |
| chr12 | 101673570 | 101674315 | E073 | -13730 |
| chr12 | 101674460 | 101674520 | E073 | -13525 |
| chr12 | 101674561 | 101674663 | E073 | -13382 |
| chr12 | 101673164 | 101673326 | E074 | -14719 |
| chr12 | 101673369 | 101673461 | E074 | -14584 |
| chr12 | 101673570 | 101674315 | E074 | -13730 |
| chr12 | 101674460 | 101674520 | E074 | -13525 |
| chr12 | 101674561 | 101674663 | E074 | -13382 |
| chr12 | 101692853 | 101693016 | E074 | 4808 |
| chr12 | 101693076 | 101693399 | E074 | 5031 |
| chr12 | 101693724 | 101694082 | E074 | 5679 |
| chr12 | 101673369 | 101673461 | E081 | -14584 |
| chr12 | 101673570 | 101674315 | E081 | -13730 |
| chr12 | 101674460 | 101674520 | E081 | -13525 |
| chr12 | 101674561 | 101674663 | E081 | -13382 |
| chr12 | 101673056 | 101673115 | E082 | -14930 |
| chr12 | 101673121 | 101673150 | E082 | -14895 |
| chr12 | 101673164 | 101673326 | E082 | -14719 |
| chr12 | 101673369 | 101673461 | E082 | -14584 |
| chr12 | 101673570 | 101674315 | E082 | -13730 |
| chr12 | 101674460 | 101674520 | E082 | -13525 |
| chr12 | 101674561 | 101674663 | E082 | -13382 |