| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.111260653G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.111698457G>A |
| CUX2 RefSeqGene | NG_023039.1:g.231630G>A |
| 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 | G=0.303 | A=0.697 |
| 1000Genomes | American | Sub | 694 | G=0.710 | A=0.290 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.286 | A=0.714 |
| 1000Genomes | Europe | Sub | 1006 | G=0.758 | A=0.242 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.478 | A=0.522 |
| 1000Genomes | South Asian | Sub | 978 | G=0.460 | A=0.540 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.774 | A=0.226 |
| The Genome Aggregation Database | African | Sub | 8698 | G=0.376 | A=0.624 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.640 | A=0.360 |
| The Genome Aggregation Database | East Asian | Sub | 1606 | G=0.346 | A=0.654 |
| The Genome Aggregation Database | Europe | Sub | 18444 | G=0.784 | A=0.215 |
| The Genome Aggregation Database | Global | Study-wide | 29888 | G=0.638 | A=0.361 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.820 | A=0.180 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.576 | A=0.423 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.781 | A=0.219 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 27824142 | Gene-gene Interaction Analyses for Atrial Fibrillation. | Lin H | Sci Rep |
| 28067321 | Methylome-wide Association Study of Atrial Fibrillation in Framingham Heart Study. | Lin H | Sci Rep |
| 28129965 | Genetic Risk Scores for Atrial Fibrillation: Do They Improve Risk Estimation? | Huang HD | Can J Cardiol |
| 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 |
|---|---|---|---|
| rs6490029 | 6.84E-10 | alcohol consumption (maxi-drinks) | 24277619 |
| rs6490029 | 0.000133 | alcohol dependence | 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 | 111649523 | 111649595 | E070 | -48862 |
| chr12 | 111649764 | 111650014 | E070 | -48443 |
| chr12 | 111650049 | 111650228 | E070 | -48229 |
| chr12 | 111650759 | 111650975 | E070 | -47482 |
| chr12 | 111651074 | 111651453 | E070 | -47004 |
| chr12 | 111651495 | 111651605 | E070 | -46852 |
| chr12 | 111652009 | 111652078 | E070 | -46379 |
| chr12 | 111652253 | 111652574 | E070 | -45883 |
| chr12 | 111652881 | 111652931 | E070 | -45526 |
| chr12 | 111653176 | 111653226 | E070 | -45231 |
| chr12 | 111653623 | 111653683 | E070 | -44774 |
| chr12 | 111653747 | 111653983 | E070 | -44474 |
| chr12 | 111658776 | 111659972 | E070 | -38485 |
| chr12 | 111660164 | 111660239 | E070 | -38218 |
| chr12 | 111660482 | 111660618 | E070 | -37839 |
| chr12 | 111660791 | 111660854 | E070 | -37603 |
| chr12 | 111661282 | 111661347 | E070 | -37110 |
| chr12 | 111661507 | 111661557 | E070 | -36900 |
| chr12 | 111661821 | 111661910 | E070 | -36547 |
| chr12 | 111662999 | 111663110 | E070 | -35347 |
| chr12 | 111686006 | 111686866 | E070 | -11591 |
| chr12 | 111686912 | 111687168 | E070 | -11289 |
| chr12 | 111688225 | 111688288 | E070 | -10169 |
| chr12 | 111688443 | 111688617 | E070 | -9840 |
| chr12 | 111688838 | 111689461 | E070 | -8996 |
| chr12 | 111690303 | 111690384 | E070 | -8073 |
| chr12 | 111698802 | 111698852 | E070 | 345 |
| chr12 | 111698871 | 111698961 | E070 | 414 |
| chr12 | 111699044 | 111699102 | E070 | 587 |
| chr12 | 111705045 | 111705273 | E070 | 6588 |
| chr12 | 111705319 | 111705509 | E070 | 6862 |
| chr12 | 111705653 | 111705723 | E070 | 7196 |
| chr12 | 111706059 | 111706109 | E070 | 7602 |
| chr12 | 111706426 | 111706490 | E070 | 7969 |
| chr12 | 111706683 | 111706841 | E070 | 8226 |
| chr12 | 111706939 | 111707027 | E070 | 8482 |
| chr12 | 111707316 | 111707387 | E070 | 8859 |
| chr12 | 111707605 | 111707952 | E070 | 9148 |
| chr12 | 111708027 | 111708188 | E070 | 9570 |
| chr12 | 111710528 | 111710721 | E070 | 12071 |
| chr12 | 111710733 | 111710922 | E070 | 12276 |
| chr12 | 111712435 | 111713036 | E070 | 13978 |
| chr12 | 111713144 | 111713526 | E070 | 14687 |
| chr12 | 111721954 | 111722052 | E070 | 23497 |
| chr12 | 111722405 | 111722730 | E070 | 23948 |
| chr12 | 111722807 | 111722847 | E070 | 24350 |
| chr12 | 111722931 | 111723004 | E070 | 24474 |
| chr12 | 111723096 | 111723316 | E070 | 24639 |
| chr12 | 111723320 | 111723540 | E070 | 24863 |
| chr12 | 111723618 | 111723668 | E070 | 25161 |
| chr12 | 111723759 | 111723809 | E070 | 25302 |
| chr12 | 111724092 | 111724172 | E070 | 25635 |
| chr12 | 111725969 | 111726023 | E070 | 27512 |
| chr12 | 111726280 | 111726320 | E070 | 27823 |
| chr12 | 111726684 | 111726724 | E070 | 28227 |
| chr12 | 111726784 | 111726841 | E070 | 28327 |
| chr12 | 111727370 | 111727430 | E070 | 28913 |
| chr12 | 111727969 | 111728057 | E070 | 29512 |
| chr12 | 111735937 | 111736160 | E070 | 37480 |
| chr12 | 111736170 | 111736367 | E070 | 37713 |
| chr12 | 111736437 | 111737139 | E070 | 37980 |
| chr12 | 111747873 | 111747913 | E070 | 49416 |
| chr12 | 111712435 | 111713036 | E073 | 13978 |
| chr12 | 111713144 | 111713526 | E073 | 14687 |
| chr12 | 111713568 | 111713630 | E073 | 15111 |
| chr12 | 111713742 | 111713825 | E073 | 15285 |
| chr12 | 111649523 | 111649595 | E081 | -48862 |
| chr12 | 111649764 | 111650014 | E081 | -48443 |
| chr12 | 111650049 | 111650228 | E081 | -48229 |
| chr12 | 111650759 | 111650975 | E081 | -47482 |
| chr12 | 111651074 | 111651453 | E081 | -47004 |
| chr12 | 111651495 | 111651605 | E081 | -46852 |
| chr12 | 111652009 | 111652078 | E081 | -46379 |
| chr12 | 111652253 | 111652574 | E081 | -45883 |
| chr12 | 111652881 | 111652931 | E081 | -45526 |
| chr12 | 111653176 | 111653226 | E081 | -45231 |
| chr12 | 111653623 | 111653683 | E081 | -44774 |
| chr12 | 111653747 | 111653983 | E081 | -44474 |
| chr12 | 111654092 | 111654132 | E081 | -44325 |
| chr12 | 111654275 | 111654474 | E081 | -43983 |
| chr12 | 111654491 | 111654531 | E081 | -43926 |
| chr12 | 111654589 | 111654629 | E081 | -43828 |
| chr12 | 111654640 | 111654690 | E081 | -43767 |
| chr12 | 111654962 | 111655061 | E081 | -43396 |
| chr12 | 111655188 | 111655238 | E081 | -43219 |
| chr12 | 111655280 | 111655330 | E081 | -43127 |
| chr12 | 111658776 | 111659972 | E081 | -38485 |
| chr12 | 111660164 | 111660239 | E081 | -38218 |
| chr12 | 111660482 | 111660618 | E081 | -37839 |
| chr12 | 111660791 | 111660854 | E081 | -37603 |
| chr12 | 111661282 | 111661347 | E081 | -37110 |
| chr12 | 111661507 | 111661557 | E081 | -36900 |
| chr12 | 111661821 | 111661910 | E081 | -36547 |
| chr12 | 111685072 | 111685332 | E081 | -13125 |
| chr12 | 111686006 | 111686866 | E081 | -11591 |
| chr12 | 111686912 | 111687168 | E081 | -11289 |
| chr12 | 111687663 | 111687713 | E081 | -10744 |
| chr12 | 111688225 | 111688288 | E081 | -10169 |
| chr12 | 111688443 | 111688617 | E081 | -9840 |
| chr12 | 111688838 | 111689461 | E081 | -8996 |
| chr12 | 111690303 | 111690384 | E081 | -8073 |
| chr12 | 111694444 | 111694494 | E081 | -3963 |
| chr12 | 111694585 | 111694635 | E081 | -3822 |
| chr12 | 111694684 | 111695073 | E081 | -3384 |
| chr12 | 111695643 | 111695806 | E081 | -2651 |
| chr12 | 111696031 | 111696085 | E081 | -2372 |
| chr12 | 111696393 | 111696471 | E081 | -1986 |
| chr12 | 111698520 | 111698704 | E081 | 63 |
| chr12 | 111698802 | 111698852 | E081 | 345 |
| chr12 | 111698871 | 111698961 | E081 | 414 |
| chr12 | 111699044 | 111699102 | E081 | 587 |
| chr12 | 111706939 | 111707027 | E081 | 8482 |
| chr12 | 111707316 | 111707387 | E081 | 8859 |
| chr12 | 111707605 | 111707952 | E081 | 9148 |
| chr12 | 111708027 | 111708188 | E081 | 9570 |
| chr12 | 111711009 | 111711088 | E081 | 12552 |
| chr12 | 111712081 | 111712154 | E081 | 13624 |
| chr12 | 111712435 | 111713036 | E081 | 13978 |
| chr12 | 111713144 | 111713526 | E081 | 14687 |
| chr12 | 111713568 | 111713630 | E081 | 15111 |
| chr12 | 111713742 | 111713825 | E081 | 15285 |
| chr12 | 111714061 | 111714242 | E081 | 15604 |
| chr12 | 111714362 | 111714402 | E081 | 15905 |
| chr12 | 111715203 | 111715348 | E081 | 16746 |
| chr12 | 111715401 | 111715617 | E081 | 16944 |
| chr12 | 111722807 | 111722847 | E081 | 24350 |
| chr12 | 111722931 | 111723004 | E081 | 24474 |
| chr12 | 111723096 | 111723316 | E081 | 24639 |
| chr12 | 111723320 | 111723540 | E081 | 24863 |
| chr12 | 111723618 | 111723668 | E081 | 25161 |
| chr12 | 111723759 | 111723809 | E081 | 25302 |
| chr12 | 111724092 | 111724172 | E081 | 25635 |
| chr12 | 111725969 | 111726023 | E081 | 27512 |
| chr12 | 111733701 | 111733812 | E081 | 35244 |
| chr12 | 111734104 | 111734154 | E081 | 35647 |
| chr12 | 111734195 | 111734245 | E081 | 35738 |
| chr12 | 111736170 | 111736367 | E081 | 37713 |
| chr12 | 111736437 | 111737139 | E081 | 37980 |
| chr12 | 111649523 | 111649595 | E082 | -48862 |
| chr12 | 111649764 | 111650014 | E082 | -48443 |
| chr12 | 111650049 | 111650228 | E082 | -48229 |
| chr12 | 111650759 | 111650975 | E082 | -47482 |
| chr12 | 111651074 | 111651453 | E082 | -47004 |
| chr12 | 111651495 | 111651605 | E082 | -46852 |
| chr12 | 111652009 | 111652078 | E082 | -46379 |
| chr12 | 111652253 | 111652574 | E082 | -45883 |
| chr12 | 111652881 | 111652931 | E082 | -45526 |
| chr12 | 111653176 | 111653226 | E082 | -45231 |
| chr12 | 111653623 | 111653683 | E082 | -44774 |
| chr12 | 111653747 | 111653983 | E082 | -44474 |
| chr12 | 111654589 | 111654629 | E082 | -43828 |
| chr12 | 111654640 | 111654690 | E082 | -43767 |
| chr12 | 111654962 | 111655061 | E082 | -43396 |
| chr12 | 111655188 | 111655238 | E082 | -43219 |
| chr12 | 111655280 | 111655330 | E082 | -43127 |
| chr12 | 111686006 | 111686866 | E082 | -11591 |
| chr12 | 111686912 | 111687168 | E082 | -11289 |
| chr12 | 111688225 | 111688288 | E082 | -10169 |
| chr12 | 111688443 | 111688617 | E082 | -9840 |
| chr12 | 111688838 | 111689461 | E082 | -8996 |
| chr12 | 111694444 | 111694494 | E082 | -3963 |
| chr12 | 111694585 | 111694635 | E082 | -3822 |
| chr12 | 111694684 | 111695073 | E082 | -3384 |
| chr12 | 111695643 | 111695806 | E082 | -2651 |
| chr12 | 111696031 | 111696085 | E082 | -2372 |
| chr12 | 111707316 | 111707387 | E082 | 8859 |
| chr12 | 111708027 | 111708188 | E082 | 9570 |
| chr12 | 111712081 | 111712154 | E082 | 13624 |
| chr12 | 111712435 | 111713036 | E082 | 13978 |
| chr12 | 111713144 | 111713526 | E082 | 14687 |
| chr12 | 111713568 | 111713630 | E082 | 15111 |
| chr12 | 111713742 | 111713825 | E082 | 15285 |
| chr12 | 111722405 | 111722730 | E082 | 23948 |
| chr12 | 111722807 | 111722847 | E082 | 24350 |
| chr12 | 111722931 | 111723004 | E082 | 24474 |
| chr12 | 111723096 | 111723316 | E082 | 24639 |
| chr12 | 111723320 | 111723540 | E082 | 24863 |
| chr12 | 111723618 | 111723668 | E082 | 25161 |
| chr12 | 111723759 | 111723809 | E082 | 25302 |
| chr12 | 111724092 | 111724172 | E082 | 25635 |
| chr12 | 111725969 | 111726023 | E082 | 27512 |
| chr12 | 111726280 | 111726320 | E082 | 27823 |
| chr12 | 111726684 | 111726724 | E082 | 28227 |
| chr12 | 111726784 | 111726841 | E082 | 28327 |