| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.111269073C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.111706877C>T |
| CUX2 RefSeqGene | NG_023039.1:g.240050C>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=0.166 | T=0.834 |
| 1000Genomes | American | Sub | 694 | C=0.680 | T=0.320 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.275 | T=0.725 |
| 1000Genomes | Europe | Sub | 1006 | C=0.731 | T=0.269 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.428 | T=0.572 |
| 1000Genomes | South Asian | Sub | 978 | C=0.450 | T=0.550 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.744 | T=0.256 |
| The Genome Aggregation Database | African | Sub | 8716 | C=0.242 | T=0.758 |
| The Genome Aggregation Database | American | Sub | 834 | C=0.590 | T=0.410 |
| The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.326 | T=0.674 |
| The Genome Aggregation Database | Europe | Sub | 18476 | C=0.754 | T=0.245 |
| The Genome Aggregation Database | Global | Study-wide | 29944 | C=0.578 | T=0.422 |
| The Genome Aggregation Database | Other | Sub | 302 | C=0.810 | T=0.190 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.504 | T=0.495 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.756 | T=0.244 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 27181629 | Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. | Sakiyama M | Sci Rep |
| 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 |
|---|---|---|---|
| rs4766566 | 8.75E-12 | alcohol consumption (maxi-drinks) | 24277619 |
| rs4766566 | 0.000026 | 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 | 111658776 | 111659972 | E070 | -46905 |
| chr12 | 111660164 | 111660239 | E070 | -46638 |
| chr12 | 111660482 | 111660618 | E070 | -46259 |
| chr12 | 111660791 | 111660854 | E070 | -46023 |
| chr12 | 111661282 | 111661347 | E070 | -45530 |
| chr12 | 111661507 | 111661557 | E070 | -45320 |
| chr12 | 111661821 | 111661910 | E070 | -44967 |
| chr12 | 111662999 | 111663110 | E070 | -43767 |
| chr12 | 111686006 | 111686866 | E070 | -20011 |
| chr12 | 111686912 | 111687168 | E070 | -19709 |
| chr12 | 111688225 | 111688288 | E070 | -18589 |
| chr12 | 111688443 | 111688617 | E070 | -18260 |
| chr12 | 111688838 | 111689461 | E070 | -17416 |
| chr12 | 111690303 | 111690384 | E070 | -16493 |
| chr12 | 111698802 | 111698852 | E070 | -8025 |
| chr12 | 111698871 | 111698961 | E070 | -7916 |
| chr12 | 111699044 | 111699102 | E070 | -7775 |
| chr12 | 111705045 | 111705273 | E070 | -1604 |
| chr12 | 111705319 | 111705509 | E070 | -1368 |
| chr12 | 111705653 | 111705723 | E070 | -1154 |
| chr12 | 111706059 | 111706109 | E070 | -768 |
| chr12 | 111706426 | 111706490 | E070 | -387 |
| chr12 | 111706683 | 111706841 | E070 | -36 |
| chr12 | 111706939 | 111707027 | E070 | 62 |
| chr12 | 111707316 | 111707387 | E070 | 439 |
| chr12 | 111707605 | 111707952 | E070 | 728 |
| chr12 | 111708027 | 111708188 | E070 | 1150 |
| chr12 | 111710528 | 111710721 | E070 | 3651 |
| chr12 | 111710733 | 111710922 | E070 | 3856 |
| chr12 | 111712435 | 111713036 | E070 | 5558 |
| chr12 | 111713144 | 111713526 | E070 | 6267 |
| chr12 | 111721954 | 111722052 | E070 | 15077 |
| chr12 | 111722405 | 111722730 | E070 | 15528 |
| chr12 | 111722807 | 111722847 | E070 | 15930 |
| chr12 | 111722931 | 111723004 | E070 | 16054 |
| chr12 | 111723096 | 111723316 | E070 | 16219 |
| chr12 | 111723320 | 111723540 | E070 | 16443 |
| chr12 | 111723618 | 111723668 | E070 | 16741 |
| chr12 | 111723759 | 111723809 | E070 | 16882 |
| chr12 | 111724092 | 111724172 | E070 | 17215 |
| chr12 | 111725969 | 111726023 | E070 | 19092 |
| chr12 | 111726280 | 111726320 | E070 | 19403 |
| chr12 | 111726684 | 111726724 | E070 | 19807 |
| chr12 | 111726784 | 111726841 | E070 | 19907 |
| chr12 | 111727370 | 111727430 | E070 | 20493 |
| chr12 | 111727969 | 111728057 | E070 | 21092 |
| chr12 | 111735937 | 111736160 | E070 | 29060 |
| chr12 | 111736170 | 111736367 | E070 | 29293 |
| chr12 | 111736437 | 111737139 | E070 | 29560 |
| chr12 | 111747873 | 111747913 | E070 | 40996 |
| chr12 | 111712435 | 111713036 | E073 | 5558 |
| chr12 | 111713144 | 111713526 | E073 | 6267 |
| chr12 | 111713568 | 111713630 | E073 | 6691 |
| chr12 | 111713742 | 111713825 | E073 | 6865 |
| chr12 | 111751480 | 111752116 | E073 | 44603 |
| chr12 | 111658776 | 111659972 | E081 | -46905 |
| chr12 | 111660164 | 111660239 | E081 | -46638 |
| chr12 | 111660482 | 111660618 | E081 | -46259 |
| chr12 | 111660791 | 111660854 | E081 | -46023 |
| chr12 | 111661282 | 111661347 | E081 | -45530 |
| chr12 | 111661507 | 111661557 | E081 | -45320 |
| chr12 | 111661821 | 111661910 | E081 | -44967 |
| chr12 | 111685072 | 111685332 | E081 | -21545 |
| chr12 | 111686006 | 111686866 | E081 | -20011 |
| chr12 | 111686912 | 111687168 | E081 | -19709 |
| chr12 | 111687663 | 111687713 | E081 | -19164 |
| chr12 | 111688225 | 111688288 | E081 | -18589 |
| chr12 | 111688443 | 111688617 | E081 | -18260 |
| chr12 | 111688838 | 111689461 | E081 | -17416 |
| chr12 | 111690303 | 111690384 | E081 | -16493 |
| chr12 | 111694444 | 111694494 | E081 | -12383 |
| chr12 | 111694585 | 111694635 | E081 | -12242 |
| chr12 | 111694684 | 111695073 | E081 | -11804 |
| chr12 | 111695643 | 111695806 | E081 | -11071 |
| chr12 | 111696031 | 111696085 | E081 | -10792 |
| chr12 | 111696393 | 111696471 | E081 | -10406 |
| chr12 | 111698520 | 111698704 | E081 | -8173 |
| chr12 | 111698802 | 111698852 | E081 | -8025 |
| chr12 | 111698871 | 111698961 | E081 | -7916 |
| chr12 | 111699044 | 111699102 | E081 | -7775 |
| chr12 | 111706939 | 111707027 | E081 | 62 |
| chr12 | 111707316 | 111707387 | E081 | 439 |
| chr12 | 111707605 | 111707952 | E081 | 728 |
| chr12 | 111708027 | 111708188 | E081 | 1150 |
| chr12 | 111711009 | 111711088 | E081 | 4132 |
| chr12 | 111712081 | 111712154 | E081 | 5204 |
| chr12 | 111712435 | 111713036 | E081 | 5558 |
| chr12 | 111713144 | 111713526 | E081 | 6267 |
| chr12 | 111713568 | 111713630 | E081 | 6691 |
| chr12 | 111713742 | 111713825 | E081 | 6865 |
| chr12 | 111714061 | 111714242 | E081 | 7184 |
| chr12 | 111714362 | 111714402 | E081 | 7485 |
| chr12 | 111715203 | 111715348 | E081 | 8326 |
| chr12 | 111715401 | 111715617 | E081 | 8524 |
| chr12 | 111722807 | 111722847 | E081 | 15930 |
| chr12 | 111722931 | 111723004 | E081 | 16054 |
| chr12 | 111723096 | 111723316 | E081 | 16219 |
| chr12 | 111723320 | 111723540 | E081 | 16443 |
| chr12 | 111723618 | 111723668 | E081 | 16741 |
| chr12 | 111723759 | 111723809 | E081 | 16882 |
| chr12 | 111724092 | 111724172 | E081 | 17215 |
| chr12 | 111725969 | 111726023 | E081 | 19092 |
| chr12 | 111733701 | 111733812 | E081 | 26824 |
| chr12 | 111734104 | 111734154 | E081 | 27227 |
| chr12 | 111734195 | 111734245 | E081 | 27318 |
| chr12 | 111736170 | 111736367 | E081 | 29293 |
| chr12 | 111736437 | 111737139 | E081 | 29560 |
| chr12 | 111686006 | 111686866 | E082 | -20011 |
| chr12 | 111686912 | 111687168 | E082 | -19709 |
| chr12 | 111688225 | 111688288 | E082 | -18589 |
| chr12 | 111688443 | 111688617 | E082 | -18260 |
| chr12 | 111688838 | 111689461 | E082 | -17416 |
| chr12 | 111694444 | 111694494 | E082 | -12383 |
| chr12 | 111694585 | 111694635 | E082 | -12242 |
| chr12 | 111694684 | 111695073 | E082 | -11804 |
| chr12 | 111695643 | 111695806 | E082 | -11071 |
| chr12 | 111696031 | 111696085 | E082 | -10792 |
| chr12 | 111707316 | 111707387 | E082 | 439 |
| chr12 | 111708027 | 111708188 | E082 | 1150 |
| chr12 | 111712081 | 111712154 | E082 | 5204 |
| chr12 | 111712435 | 111713036 | E082 | 5558 |
| chr12 | 111713144 | 111713526 | E082 | 6267 |
| chr12 | 111713568 | 111713630 | E082 | 6691 |
| chr12 | 111713742 | 111713825 | E082 | 6865 |
| chr12 | 111722405 | 111722730 | E082 | 15528 |
| chr12 | 111722807 | 111722847 | E082 | 15930 |
| chr12 | 111722931 | 111723004 | E082 | 16054 |
| chr12 | 111723096 | 111723316 | E082 | 16219 |
| chr12 | 111723320 | 111723540 | E082 | 16443 |
| chr12 | 111723618 | 111723668 | E082 | 16741 |
| chr12 | 111723759 | 111723809 | E082 | 16882 |
| chr12 | 111724092 | 111724172 | E082 | 17215 |
| chr12 | 111725969 | 111726023 | E082 | 19092 |
| chr12 | 111726280 | 111726320 | E082 | 19403 |
| chr12 | 111726684 | 111726724 | E082 | 19807 |
| chr12 | 111726784 | 111726841 | E082 | 19907 |