Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 16 | NC_000016.10:g.81270154T>C |
GRCh37.p13 chr 16 | NC_000016.9:g.81303759T>C |
BCO1 RefSeqGene | NG_012171.1:g.36464T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
BCO1 transcript | NM_017429.2:c. | N/A | Intron Variant |
BCO1 transcript variant X1 | XM_011523109.1:c. | N/A | Intron Variant |
BCO1 transcript variant X2 | XM_017023286.1:c. | N/A | Intron Variant |
BCO1 transcript variant X3 | XM_017023287.1:c. | N/A | Intron Variant |
BCO1 transcript variant X4 | XM_017023288.1:c. | N/A | Intron Variant |
BCO1 transcript variant X5 | XM_017023289.1:c. | N/A | Intron Variant |
BCO1 transcript variant X6 | XR_001751914.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.978 | C=0.022 |
1000Genomes | American | Sub | 694 | T=0.680 | C=0.320 |
1000Genomes | East Asian | Sub | 1008 | T=0.865 | C=0.135 |
1000Genomes | Europe | Sub | 1006 | T=0.553 | C=0.447 |
1000Genomes | Global | Study-wide | 5008 | T=0.787 | C=0.213 |
1000Genomes | South Asian | Sub | 978 | T=0.770 | C=0.230 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.555 | C=0.445 |
The Exome Aggregation Consortium | American | Sub | 21972 | T=0.805 | C=0.194 |
The Exome Aggregation Consortium | Asian | Sub | 25150 | T=0.776 | C=0.223 |
The Exome Aggregation Consortium | Europe | Sub | 73340 | T=0.547 | C=0.452 |
The Exome Aggregation Consortium | Global | Study-wide | 121370 | T=0.641 | C=0.358 |
The Exome Aggregation Consortium | Other | Sub | 908 | T=0.580 | C=0.420 |
The Genome Aggregation Database | African | Sub | 8688 | T=0.910 | C=0.090 |
The Genome Aggregation Database | American | Sub | 836 | T=0.680 | C=0.320 |
The Genome Aggregation Database | East Asian | Sub | 1616 | T=0.860 | C=0.140 |
The Genome Aggregation Database | Europe | Sub | 18434 | T=0.549 | C=0.450 |
The Genome Aggregation Database | Global | Study-wide | 29876 | T=0.674 | C=0.325 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.530 | C=0.470 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.725 | C=0.274 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.545 | C=0.455 |
PMID | Title | Author | Journal |
---|---|---|---|
24277619 | ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. | Quillen EE | Am J Med Genet B Neuropsychiatr Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs4889294 | 0.000203 | alcohol consumption (maxi-drinks) | 24277619 |
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 ) |
---|---|---|---|---|
chr16 | 81345356 | 81345458 | E067 | 41597 |
chr16 | 81345518 | 81345568 | E067 | 41759 |
chr16 | 81346301 | 81346346 | E067 | 42542 |
chr16 | 81350160 | 81350215 | E067 | 46401 |
chr16 | 81350219 | 81350259 | E067 | 46460 |
chr16 | 81350299 | 81350387 | E067 | 46540 |
chr16 | 81350410 | 81350482 | E067 | 46651 |
chr16 | 81350734 | 81350784 | E067 | 46975 |
chr16 | 81350788 | 81350853 | E067 | 47029 |
chr16 | 81350908 | 81350965 | E067 | 47149 |
chr16 | 81351025 | 81351106 | E067 | 47266 |
chr16 | 81270891 | 81271591 | E068 | -32168 |
chr16 | 81271625 | 81271760 | E068 | -31999 |
chr16 | 81299674 | 81300127 | E068 | -3632 |
chr16 | 81310881 | 81311144 | E068 | 7122 |
chr16 | 81346399 | 81346449 | E068 | 42640 |
chr16 | 81350788 | 81350853 | E068 | 47029 |
chr16 | 81350908 | 81350965 | E068 | 47149 |
chr16 | 81270891 | 81271591 | E069 | -32168 |
chr16 | 81271625 | 81271760 | E069 | -31999 |
chr16 | 81342431 | 81342565 | E069 | 38672 |
chr16 | 81345356 | 81345458 | E069 | 41597 |
chr16 | 81345518 | 81345568 | E069 | 41759 |
chr16 | 81346301 | 81346346 | E069 | 42542 |
chr16 | 81346399 | 81346449 | E069 | 42640 |
chr16 | 81299511 | 81299561 | E070 | -4198 |
chr16 | 81299674 | 81300127 | E070 | -3632 |
chr16 | 81346399 | 81346449 | E070 | 42640 |
chr16 | 81350160 | 81350215 | E070 | 46401 |
chr16 | 81350410 | 81350482 | E070 | 46651 |
chr16 | 81350734 | 81350784 | E070 | 46975 |
chr16 | 81350788 | 81350853 | E070 | 47029 |
chr16 | 81350908 | 81350965 | E070 | 47149 |
chr16 | 81351025 | 81351106 | E070 | 47266 |
chr16 | 81270891 | 81271591 | E071 | -32168 |
chr16 | 81271625 | 81271760 | E071 | -31999 |
chr16 | 81297031 | 81297982 | E071 | -5777 |
chr16 | 81298148 | 81298198 | E071 | -5561 |
chr16 | 81298322 | 81298421 | E071 | -5338 |
chr16 | 81299511 | 81299561 | E071 | -4198 |
chr16 | 81299674 | 81300127 | E071 | -3632 |
chr16 | 81300251 | 81300734 | E071 | -3025 |
chr16 | 81308508 | 81308785 | E071 | 4749 |
chr16 | 81308822 | 81308996 | E071 | 5063 |
chr16 | 81309020 | 81309243 | E071 | 5261 |
chr16 | 81345266 | 81345316 | E071 | 41507 |
chr16 | 81345356 | 81345458 | E071 | 41597 |
chr16 | 81345518 | 81345568 | E071 | 41759 |
chr16 | 81270891 | 81271591 | E072 | -32168 |
chr16 | 81353582 | 81353651 | E072 | 49823 |
chr16 | 81353702 | 81353757 | E072 | 49943 |
chr16 | 81299511 | 81299561 | E073 | -4198 |
chr16 | 81345266 | 81345316 | E073 | 41507 |
chr16 | 81345356 | 81345458 | E073 | 41597 |
chr16 | 81345518 | 81345568 | E073 | 41759 |
chr16 | 81350160 | 81350215 | E073 | 46401 |
chr16 | 81350219 | 81350259 | E073 | 46460 |
chr16 | 81350299 | 81350387 | E073 | 46540 |
chr16 | 81306534 | 81306588 | E074 | 2775 |
chr16 | 81345266 | 81345316 | E074 | 41507 |
chr16 | 81345356 | 81345458 | E074 | 41597 |
chr16 | 81345518 | 81345568 | E074 | 41759 |
chr16 | 81346301 | 81346346 | E074 | 42542 |
chr16 | 81346399 | 81346449 | E074 | 42640 |
chr16 | 81351971 | 81352060 | E074 | 48212 |
chr16 | 81350160 | 81350215 | E081 | 46401 |
chr16 | 81350219 | 81350259 | E081 | 46460 |
chr16 | 81350299 | 81350387 | E081 | 46540 |
chr16 | 81350410 | 81350482 | E081 | 46651 |
chr16 | 81350734 | 81350784 | E081 | 46975 |
chr16 | 81350788 | 81350853 | E081 | 47029 |
chr16 | 81345518 | 81345568 | E082 | 41759 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr16 | 81271801 | 81272604 | E067 | -31155 |
chr16 | 81347763 | 81349964 | E067 | 44004 |
chr16 | 81271801 | 81272604 | E068 | -31155 |
chr16 | 81347763 | 81349964 | E068 | 44004 |
chr16 | 81271801 | 81272604 | E069 | -31155 |
chr16 | 81347763 | 81349964 | E069 | 44004 |
chr16 | 81347763 | 81349964 | E070 | 44004 |
chr16 | 81271801 | 81272604 | E071 | -31155 |
chr16 | 81347763 | 81349964 | E071 | 44004 |
chr16 | 81271801 | 81272604 | E072 | -31155 |
chr16 | 81347763 | 81349964 | E072 | 44004 |
chr16 | 81271801 | 81272604 | E073 | -31155 |
chr16 | 81347763 | 81349964 | E073 | 44004 |
chr16 | 81271801 | 81272604 | E074 | -31155 |
chr16 | 81347763 | 81349964 | E074 | 44004 |
chr16 | 81347763 | 81349964 | E082 | 44004 |