| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 4 | NC_000004.12:g.77818978G>A |
| GRCh38.p7 chr 4 | NC_000004.12:g.77818978G>C |
| GRCh37.p13 chr 4 | NC_000004.11:g.78740132G>A |
| GRCh37.p13 chr 4 | NC_000004.11:g.78740132G>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CNOT6L transcript variant 1 | NM_001286790.1:c. | N/A | Intron Variant |
| CNOT6L transcript variant 2 | NM_144571.2:c. | N/A | Intron Variant |
| CNOT6L transcript variant X1 | XM_011531806.2:c. | N/A | Intron Variant |
| CNOT6L transcript variant X2 | XM_011531807.2:c. | N/A | Intron Variant |
| CNOT6L transcript variant X3 | XM_011531808.2:c. | N/A | Intron Variant |
| CNOT6L transcript variant X4 | XM_011531809.1:c. | N/A | Intron Variant |
| CNOT6L transcript variant X5 | XM_011531810.1:c. | N/A | Intron Variant |
| CNOT6L transcript variant X6 | XM_017007956.1:c. | N/A | 5 Prime UTR Variant |
| CNOT6L transcript variant X7 | XM_017007957.1:c. | N/A | Genic Upstream Transcript Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.407 | C=0.593 |
| 1000Genomes | American | Sub | 694 | G=0.130 | C=0.870 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.184 | C=0.816 |
| 1000Genomes | Europe | Sub | 1006 | G=0.129 | C=0.871 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.238 | C=0.762 |
| 1000Genomes | South Asian | Sub | 978 | G=0.260 | C=0.740 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.145 | C=0.855 |
| The Exome Aggregation Consortium | American | Sub | 272 | G=0.330 | C=0.670 |
| The Exome Aggregation Consortium | Asian | Sub | 6816 | G=0.238 | C=0.762 |
| The Exome Aggregation Consortium | Europe | Sub | 2290 | G=0.146 | C=0.854 |
| The Exome Aggregation Consortium | Global | Study-wide | 9476 | G=0.218 | C=0.782 |
| The Exome Aggregation Consortium | Other | Sub | 98 | G=0.300 | C=0.700 |
| The Genome Aggregation Database | African | Sub | 8230 | G=0.375 | C=0.625 |
| The Genome Aggregation Database | American | Sub | 810 | G=0.140 | C=0.860 |
| The Genome Aggregation Database | East Asian | Sub | 1560 | G=0.168 | C=0.832 |
| The Genome Aggregation Database | Europe | Sub | 17636 | G=0.141 | C=0.858 |
| The Genome Aggregation Database | Global | Study-wide | 28524 | G=0.210 | C=0.789 |
| The Genome Aggregation Database | Other | Sub | 288 | G=0.150 | C=0.850 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.255 | C=0.744 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.140 | C=0.860 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs6828302 | 0.000102 | alcohol consumption | 23743675 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 4.5600e-15 | -637 | Cerebellum |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 7.2038e-4 | -637 | Frontal_Cortex_BA9 |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 3.3539e-6 | -637 | Cortex |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 8.9878e-8 | -637 | Cerebellar_Hemisphere |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 3.2735e-5 | -637 | Caudate_basal_ganglia |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 7.4447e-4 | -637 | Brain_Spinal_cord_cervical |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 8.5293e-8 | -637 | Putamen_basal_ganglia |
| Chr4:78740132 | CNOT6L | ENSG00000138767.8 | G>C | 5.2792e-5 | -637 | Nucleus_accumbens_basal_ganglia |
| 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.