Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.94347930T>C |
GRCh37.p13 chr 12 | NC_000012.11:g.94741706T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CEP83 transcript variant 2 | NM_001042399.1:c. | N/A | Intron Variant |
CEP83 transcript variant 1 | NM_016122.2:c. | N/A | Intron Variant |
CEP83 transcript variant X10 | XM_006719437.2:c. | N/A | Intron Variant |
CEP83 transcript variant X2 | XM_011538424.1:c. | N/A | Intron Variant |
CEP83 transcript variant X12 | XM_011538427.2:c. | N/A | Intron Variant |
CEP83 transcript variant X16 | XM_011538429.2:c. | N/A | Intron Variant |
CEP83 transcript variant X8 | XM_017019385.1:c. | N/A | Intron Variant |
CEP83 transcript variant X9 | XM_017019386.1:c. | N/A | Intron Variant |
CEP83 transcript variant X13 | XM_017019387.1:c. | N/A | Intron Variant |
CEP83 transcript variant X12 | XM_017019388.1:c. | N/A | Intron Variant |
CEP83 transcript variant X15 | XM_017019389.1:c. | N/A | Intron Variant |
CEP83 transcript variant X1 | XR_001748731.1:n. | N/A | Intron Variant |
CEP83 transcript variant X3 | XR_001748732.1:n. | N/A | Intron Variant |
CEP83 transcript variant X4 | XR_001748733.1:n. | N/A | Intron Variant |
CEP83 transcript variant X5 | XR_001748734.1:n. | N/A | Intron Variant |
CEP83 transcript variant X6 | XR_001748735.1:n. | N/A | Intron Variant |
CEP83 transcript variant X7 | XR_001748736.1:n. | N/A | Intron Variant |
CEP83 transcript variant X11 | XR_001748737.1:n. | N/A | Intron Variant |
CEP83 transcript variant X17 | XR_001748738.1:n. | N/A | Intron Variant |
CEP83 transcript variant X18 | XR_001748739.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.961 | C=0.039 |
1000Genomes | American | Sub | 694 | T=0.870 | C=0.130 |
1000Genomes | East Asian | Sub | 1008 | T=0.941 | C=0.059 |
1000Genomes | Europe | Sub | 1006 | T=0.883 | C=0.117 |
1000Genomes | Global | Study-wide | 5008 | T=0.925 | C=0.075 |
1000Genomes | South Asian | Sub | 978 | T=0.940 | C=0.060 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.885 | C=0.115 |
The Genome Aggregation Database | African | Sub | 8714 | T=0.958 | C=0.042 |
The Genome Aggregation Database | American | Sub | 834 | T=0.830 | C=0.170 |
The Genome Aggregation Database | East Asian | Sub | 1616 | T=0.942 | C=0.058 |
The Genome Aggregation Database | Europe | Sub | 18408 | T=0.891 | C=0.108 |
The Genome Aggregation Database | Global | Study-wide | 29872 | T=0.912 | C=0.088 |
The Genome Aggregation Database | Other | Sub | 300 | T=0.870 | C=0.130 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.907 | C=0.092 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.890 | C=0.110 |
PMID | Title | Author | Journal |
---|---|---|---|
19581569 | Genome-wide association study of alcohol dependence. | Treutlein J | Arch Gen Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs7138291 | 5.7E-05 | alcohol dependence | 19581569 |
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 | 94698030 | 94698114 | E070 | -43592 |
chr12 | 94698292 | 94699706 | E070 | -42000 |
chr12 | 94735609 | 94735690 | E070 | -6016 |