| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.111254320C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.111692124C>T |
| CUX2 RefSeqGene | NG_023039.1:g.225297C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CUX2 transcript | NM_015267.3:c. | N/A | Intron Variant |
| CUX2 transcript variant X1 | XM_011538061.2:c. | N/A | Intron Variant |
| CUX2 transcript variant X2 | XM_011538063.2:c. | N/A | Intron Variant |
| CUX2 transcript variant X6 | XM_011538069.2:c. | N/A | Intron Variant |
| CUX2 transcript variant X3 | XM_011538070.2:c. | N/A | Intron Variant |
| CUX2 transcript variant X4 | XM_017019080.1:c. | N/A | Intron Variant |
| CUX2 transcript variant X5 | XM_017019081.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | C=0.667 | T=0.333 |
| 1000Genomes | American | Sub | 694 | C=0.800 | T=0.200 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.531 | T=0.469 |
| 1000Genomes | Europe | Sub | 1006 | C=0.757 | T=0.243 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.650 | T=0.350 |
| 1000Genomes | South Asian | Sub | 978 | C=0.530 | T=0.470 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.755 | T=0.245 |
| The Genome Aggregation Database | African | Sub | 8710 | C=0.700 | T=0.300 |
| The Genome Aggregation Database | American | Sub | 836 | C=0.730 | T=0.270 |
| The Genome Aggregation Database | East Asian | Sub | 1610 | C=0.557 | T=0.443 |
| The Genome Aggregation Database | Europe | Sub | 18438 | C=0.754 | T=0.245 |
| The Genome Aggregation Database | Global | Study-wide | 29896 | C=0.728 | T=0.271 |
| The Genome Aggregation Database | Other | Sub | 302 | C=0.850 | T=0.150 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.721 | T=0.279 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.770 | T=0.230 |
| 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 |
|---|---|---|---|
| rs4766453 | 0.00000139 | alcohol dependence | 24277619 |
| rs4766453 | 0.000029 | 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 ) |
|---|---|---|---|---|
| chr12 | 111642265 | 111642319 | E070 | -49805 |
| chr12 | 111642395 | 111642445 | E070 | -49679 |
| chr12 | 111642595 | 111642767 | E070 | -49357 |
| chr12 | 111643046 | 111643096 | E070 | -49028 |
| chr12 | 111643126 | 111643206 | E070 | -48918 |
| chr12 | 111643262 | 111643302 | E070 | -48822 |
| chr12 | 111646465 | 111646588 | E070 | -45536 |
| chr12 | 111646871 | 111646932 | E070 | -45192 |
| chr12 | 111646936 | 111646986 | E070 | -45138 |
| chr12 | 111649523 | 111649595 | E070 | -42529 |
| chr12 | 111649764 | 111650014 | E070 | -42110 |
| chr12 | 111650049 | 111650228 | E070 | -41896 |
| chr12 | 111650759 | 111650975 | E070 | -41149 |
| chr12 | 111651074 | 111651453 | E070 | -40671 |
| chr12 | 111651495 | 111651605 | E070 | -40519 |
| chr12 | 111652009 | 111652078 | E070 | -40046 |
| chr12 | 111652253 | 111652574 | E070 | -39550 |
| chr12 | 111652881 | 111652931 | E070 | -39193 |
| chr12 | 111653176 | 111653226 | E070 | -38898 |
| chr12 | 111653623 | 111653683 | E070 | -38441 |
| chr12 | 111653747 | 111653983 | E070 | -38141 |
| chr12 | 111658776 | 111659972 | E070 | -32152 |
| chr12 | 111660164 | 111660239 | E070 | -31885 |
| chr12 | 111660482 | 111660618 | E070 | -31506 |
| chr12 | 111660791 | 111660854 | E070 | -31270 |
| chr12 | 111661282 | 111661347 | E070 | -30777 |
| chr12 | 111661507 | 111661557 | E070 | -30567 |
| chr12 | 111661821 | 111661910 | E070 | -30214 |
| chr12 | 111662999 | 111663110 | E070 | -29014 |
| chr12 | 111686006 | 111686866 | E070 | -5258 |
| chr12 | 111686912 | 111687168 | E070 | -4956 |
| chr12 | 111688225 | 111688288 | E070 | -3836 |
| chr12 | 111688443 | 111688617 | E070 | -3507 |
| chr12 | 111688838 | 111689461 | E070 | -2663 |
| chr12 | 111690303 | 111690384 | E070 | -1740 |
| chr12 | 111698802 | 111698852 | E070 | 6678 |
| chr12 | 111698871 | 111698961 | E070 | 6747 |
| chr12 | 111699044 | 111699102 | E070 | 6920 |
| chr12 | 111705045 | 111705273 | E070 | 12921 |
| chr12 | 111705319 | 111705509 | E070 | 13195 |
| chr12 | 111705653 | 111705723 | E070 | 13529 |
| chr12 | 111706059 | 111706109 | E070 | 13935 |
| chr12 | 111706426 | 111706490 | E070 | 14302 |
| chr12 | 111706683 | 111706841 | E070 | 14559 |
| chr12 | 111706939 | 111707027 | E070 | 14815 |
| chr12 | 111707316 | 111707387 | E070 | 15192 |
| chr12 | 111707605 | 111707952 | E070 | 15481 |
| chr12 | 111708027 | 111708188 | E070 | 15903 |
| chr12 | 111710528 | 111710721 | E070 | 18404 |
| chr12 | 111710733 | 111710922 | E070 | 18609 |
| chr12 | 111712435 | 111713036 | E070 | 20311 |
| chr12 | 111713144 | 111713526 | E070 | 21020 |
| chr12 | 111721954 | 111722052 | E070 | 29830 |
| chr12 | 111722405 | 111722730 | E070 | 30281 |
| chr12 | 111722807 | 111722847 | E070 | 30683 |
| chr12 | 111722931 | 111723004 | E070 | 30807 |
| chr12 | 111723096 | 111723316 | E070 | 30972 |
| chr12 | 111723320 | 111723540 | E070 | 31196 |
| chr12 | 111723618 | 111723668 | E070 | 31494 |
| chr12 | 111723759 | 111723809 | E070 | 31635 |
| chr12 | 111724092 | 111724172 | E070 | 31968 |
| chr12 | 111725969 | 111726023 | E070 | 33845 |
| chr12 | 111726280 | 111726320 | E070 | 34156 |
| chr12 | 111726684 | 111726724 | E070 | 34560 |
| chr12 | 111726784 | 111726841 | E070 | 34660 |
| chr12 | 111727370 | 111727430 | E070 | 35246 |
| chr12 | 111727969 | 111728057 | E070 | 35845 |
| chr12 | 111735937 | 111736160 | E070 | 43813 |
| chr12 | 111736170 | 111736367 | E070 | 44046 |
| chr12 | 111736437 | 111737139 | E070 | 44313 |
| chr12 | 111712435 | 111713036 | E073 | 20311 |
| chr12 | 111713144 | 111713526 | E073 | 21020 |
| chr12 | 111713568 | 111713630 | E073 | 21444 |
| chr12 | 111713742 | 111713825 | E073 | 21618 |
| chr12 | 111642265 | 111642319 | E081 | -49805 |
| chr12 | 111642395 | 111642445 | E081 | -49679 |
| chr12 | 111642595 | 111642767 | E081 | -49357 |
| chr12 | 111643046 | 111643096 | E081 | -49028 |
| chr12 | 111643126 | 111643206 | E081 | -48918 |
| chr12 | 111649523 | 111649595 | E081 | -42529 |
| chr12 | 111649764 | 111650014 | E081 | -42110 |
| chr12 | 111650049 | 111650228 | E081 | -41896 |
| chr12 | 111650759 | 111650975 | E081 | -41149 |
| chr12 | 111651074 | 111651453 | E081 | -40671 |
| chr12 | 111651495 | 111651605 | E081 | -40519 |
| chr12 | 111652009 | 111652078 | E081 | -40046 |
| chr12 | 111652253 | 111652574 | E081 | -39550 |
| chr12 | 111652881 | 111652931 | E081 | -39193 |
| chr12 | 111653176 | 111653226 | E081 | -38898 |
| chr12 | 111653623 | 111653683 | E081 | -38441 |
| chr12 | 111653747 | 111653983 | E081 | -38141 |
| chr12 | 111654092 | 111654132 | E081 | -37992 |
| chr12 | 111654275 | 111654474 | E081 | -37650 |
| chr12 | 111654491 | 111654531 | E081 | -37593 |
| chr12 | 111654589 | 111654629 | E081 | -37495 |
| chr12 | 111654640 | 111654690 | E081 | -37434 |
| chr12 | 111654962 | 111655061 | E081 | -37063 |
| chr12 | 111655188 | 111655238 | E081 | -36886 |
| chr12 | 111655280 | 111655330 | E081 | -36794 |
| chr12 | 111658776 | 111659972 | E081 | -32152 |
| chr12 | 111660164 | 111660239 | E081 | -31885 |
| chr12 | 111660482 | 111660618 | E081 | -31506 |
| chr12 | 111660791 | 111660854 | E081 | -31270 |
| chr12 | 111661282 | 111661347 | E081 | -30777 |
| chr12 | 111661507 | 111661557 | E081 | -30567 |
| chr12 | 111661821 | 111661910 | E081 | -30214 |
| chr12 | 111685072 | 111685332 | E081 | -6792 |
| chr12 | 111686006 | 111686866 | E081 | -5258 |
| chr12 | 111686912 | 111687168 | E081 | -4956 |
| chr12 | 111687663 | 111687713 | E081 | -4411 |
| chr12 | 111688225 | 111688288 | E081 | -3836 |
| chr12 | 111688443 | 111688617 | E081 | -3507 |
| chr12 | 111688838 | 111689461 | E081 | -2663 |
| chr12 | 111690303 | 111690384 | E081 | -1740 |
| chr12 | 111694444 | 111694494 | E081 | 2320 |
| chr12 | 111694585 | 111694635 | E081 | 2461 |
| chr12 | 111694684 | 111695073 | E081 | 2560 |
| chr12 | 111695643 | 111695806 | E081 | 3519 |
| chr12 | 111696031 | 111696085 | E081 | 3907 |
| chr12 | 111696393 | 111696471 | E081 | 4269 |
| chr12 | 111698520 | 111698704 | E081 | 6396 |
| chr12 | 111698802 | 111698852 | E081 | 6678 |
| chr12 | 111698871 | 111698961 | E081 | 6747 |
| chr12 | 111699044 | 111699102 | E081 | 6920 |
| chr12 | 111706939 | 111707027 | E081 | 14815 |
| chr12 | 111707316 | 111707387 | E081 | 15192 |
| chr12 | 111707605 | 111707952 | E081 | 15481 |
| chr12 | 111708027 | 111708188 | E081 | 15903 |
| chr12 | 111711009 | 111711088 | E081 | 18885 |
| chr12 | 111712081 | 111712154 | E081 | 19957 |
| chr12 | 111712435 | 111713036 | E081 | 20311 |
| chr12 | 111713144 | 111713526 | E081 | 21020 |
| chr12 | 111713568 | 111713630 | E081 | 21444 |
| chr12 | 111713742 | 111713825 | E081 | 21618 |
| chr12 | 111714061 | 111714242 | E081 | 21937 |
| chr12 | 111714362 | 111714402 | E081 | 22238 |
| chr12 | 111715203 | 111715348 | E081 | 23079 |
| chr12 | 111715401 | 111715617 | E081 | 23277 |
| chr12 | 111722807 | 111722847 | E081 | 30683 |
| chr12 | 111722931 | 111723004 | E081 | 30807 |
| chr12 | 111723096 | 111723316 | E081 | 30972 |
| chr12 | 111723320 | 111723540 | E081 | 31196 |
| chr12 | 111723618 | 111723668 | E081 | 31494 |
| chr12 | 111723759 | 111723809 | E081 | 31635 |
| chr12 | 111724092 | 111724172 | E081 | 31968 |
| chr12 | 111725969 | 111726023 | E081 | 33845 |
| chr12 | 111733701 | 111733812 | E081 | 41577 |
| chr12 | 111734104 | 111734154 | E081 | 41980 |
| chr12 | 111734195 | 111734245 | E081 | 42071 |
| chr12 | 111736170 | 111736367 | E081 | 44046 |
| chr12 | 111736437 | 111737139 | E081 | 44313 |
| chr12 | 111649523 | 111649595 | E082 | -42529 |
| chr12 | 111649764 | 111650014 | E082 | -42110 |
| chr12 | 111650049 | 111650228 | E082 | -41896 |
| chr12 | 111650759 | 111650975 | E082 | -41149 |
| chr12 | 111651074 | 111651453 | E082 | -40671 |
| chr12 | 111651495 | 111651605 | E082 | -40519 |
| chr12 | 111652009 | 111652078 | E082 | -40046 |
| chr12 | 111652253 | 111652574 | E082 | -39550 |
| chr12 | 111652881 | 111652931 | E082 | -39193 |
| chr12 | 111653176 | 111653226 | E082 | -38898 |
| chr12 | 111653623 | 111653683 | E082 | -38441 |
| chr12 | 111653747 | 111653983 | E082 | -38141 |
| chr12 | 111654589 | 111654629 | E082 | -37495 |
| chr12 | 111654640 | 111654690 | E082 | -37434 |
| chr12 | 111654962 | 111655061 | E082 | -37063 |
| chr12 | 111655188 | 111655238 | E082 | -36886 |
| chr12 | 111655280 | 111655330 | E082 | -36794 |
| chr12 | 111686006 | 111686866 | E082 | -5258 |
| chr12 | 111686912 | 111687168 | E082 | -4956 |
| chr12 | 111688225 | 111688288 | E082 | -3836 |
| chr12 | 111688443 | 111688617 | E082 | -3507 |
| chr12 | 111688838 | 111689461 | E082 | -2663 |
| chr12 | 111694444 | 111694494 | E082 | 2320 |
| chr12 | 111694585 | 111694635 | E082 | 2461 |
| chr12 | 111694684 | 111695073 | E082 | 2560 |
| chr12 | 111695643 | 111695806 | E082 | 3519 |
| chr12 | 111696031 | 111696085 | E082 | 3907 |
| chr12 | 111707316 | 111707387 | E082 | 15192 |
| chr12 | 111708027 | 111708188 | E082 | 15903 |
| chr12 | 111712081 | 111712154 | E082 | 19957 |
| chr12 | 111712435 | 111713036 | E082 | 20311 |
| chr12 | 111713144 | 111713526 | E082 | 21020 |
| chr12 | 111713568 | 111713630 | E082 | 21444 |
| chr12 | 111713742 | 111713825 | E082 | 21618 |
| chr12 | 111722405 | 111722730 | E082 | 30281 |
| chr12 | 111722807 | 111722847 | E082 | 30683 |
| chr12 | 111722931 | 111723004 | E082 | 30807 |
| chr12 | 111723096 | 111723316 | E082 | 30972 |
| chr12 | 111723320 | 111723540 | E082 | 31196 |
| chr12 | 111723618 | 111723668 | E082 | 31494 |
| chr12 | 111723759 | 111723809 | E082 | 31635 |
| chr12 | 111724092 | 111724172 | E082 | 31968 |
| chr12 | 111725969 | 111726023 | E082 | 33845 |
| chr12 | 111726280 | 111726320 | E082 | 34156 |
| chr12 | 111726684 | 111726724 | E082 | 34560 |
| chr12 | 111726784 | 111726841 | E082 | 34660 |