| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.112971371G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.113409176G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| OAS3 transcript | NM_006187.3:c. | N/A | 3 Prime UTR Variant |
| OAS3 transcript variant X1 | XM_005253889.3:c. | N/A | 3 Prime UTR Variant |
| OAS3 transcript variant X2 | XM_017019363.1:c. | N/A | 3 Prime UTR Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=1.000 | A=0.000 |
| 1000Genomes | American | Sub | 694 | G=1.000 | A=0.000 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.881 | A=0.119 |
| 1000Genomes | Europe | Sub | 1006 | G=1.000 | A=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.976 | A=0.024 |
| 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=0.999 | A=0.001 |
| The Genome Aggregation Database | African | Sub | 8728 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | American | Sub | 838 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | East Asian | Sub | 1606 | G=0.837 | A=0.163 |
| The Genome Aggregation Database | Europe | Sub | 18498 | G=0.999 | A=0.000 |
| The Genome Aggregation Database | Global | Study-wide | 29970 | G=0.991 | A=0.008 |
| The Genome Aggregation Database | Other | Sub | 300 | G=1.000 | A=0.000 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.999 | A=0.000 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=1.000 | A=0.000 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 23555315 | Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. | Haiman CA | PLoS Genet |
| 21270382 | Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. | Baik I | Am J Clin Nutr |
| 25464127 | On the analysis of a repeated measure design in genome-wide association analysis. | Lee Y | Int J Environ Res Public Health |
| 24142389 | Male-specific genetic effect on hypertension and metabolic disorders. | Heo SG | Hum Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs2072134 | 1.70E-37 | alcohol (ever vs. never) | 23555315 |
| rs2072134 | 6.00E-17 | alcohol consumption | 21270382 |
| 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 | 113409690 | 113409761 | E070 | 514 |
| chr12 | 113411246 | 113411412 | E071 | 2070 |
| chr12 | 113411503 | 113411557 | E071 | 2327 |
| chr12 | 113411626 | 113412058 | E071 | 2450 |
| chr12 | 113411626 | 113412058 | E072 | 2450 |
| chr12 | 113412116 | 113412179 | E072 | 2940 |
| chr12 | 113411246 | 113411412 | E073 | 2070 |
| chr12 | 113411503 | 113411557 | E073 | 2327 |
| chr12 | 113411626 | 113412058 | E073 | 2450 |
| chr12 | 113384099 | 113384143 | E081 | -25033 |
| chr12 | 113400602 | 113400806 | E081 | -8370 |
| chr12 | 113401303 | 113401358 | E081 | -7818 |
| chr12 | 113401440 | 113401614 | E081 | -7562 |
| chr12 | 113401786 | 113401844 | E081 | -7332 |
| chr12 | 113401934 | 113401988 | E081 | -7188 |
| chr12 | 113402268 | 113402337 | E081 | -6839 |
| chr12 | 113402472 | 113402674 | E081 | -6502 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 113375521 | 113376887 | E067 | -32289 |
| chr12 | 113415831 | 113417395 | E067 | 6655 |
| chr12 | 113375521 | 113376887 | E068 | -32289 |
| chr12 | 113415831 | 113417395 | E068 | 6655 |
| chr12 | 113417479 | 113417707 | E068 | 8303 |
| chr12 | 113375521 | 113376887 | E069 | -32289 |
| chr12 | 113415831 | 113417395 | E069 | 6655 |
| chr12 | 113375521 | 113376887 | E070 | -32289 |
| chr12 | 113375521 | 113376887 | E071 | -32289 |
| chr12 | 113415831 | 113417395 | E071 | 6655 |
| chr12 | 113417479 | 113417707 | E071 | 8303 |
| chr12 | 113375521 | 113376887 | E072 | -32289 |
| chr12 | 113415831 | 113417395 | E072 | 6655 |
| chr12 | 113375521 | 113376887 | E073 | -32289 |
| chr12 | 113415831 | 113417395 | E073 | 6655 |
| chr12 | 113375521 | 113376887 | E074 | -32289 |
| chr12 | 113415831 | 113417395 | E074 | 6655 |
| chr12 | 113417479 | 113417707 | E074 | 8303 |
| chr12 | 113375521 | 113376887 | E082 | -32289 |