| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 7 | NC_000007.14:g.50555587T>C |
| GRCh37.p13 chr 7 | NC_000007.13:g.50623285T>C |
| DDC RefSeqGene | NG_008742.1:g.14870A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DDC transcript variant 2 | NM_000790.3:c. | N/A | Intron Variant |
| DDC transcript variant 1 | NM_001082971.1:c. | N/A | Intron Variant |
| DDC transcript variant 3 | NM_001242886.1:c. | N/A | Intron Variant |
| DDC transcript variant 4 | NM_001242887.1:c. | N/A | Intron Variant |
| DDC transcript variant 5 | NM_001242888.1:c. | N/A | Intron Variant |
| DDC transcript variant 6 | NM_001242889.1:c. | N/A | Intron Variant |
| DDC transcript variant 7 | NM_001242890.1:c. | N/A | Intron Variant |
| DDC transcript variant X2 | XM_005271745.4:c. | N/A | Intron Variant |
| DDC transcript variant X1 | XM_011515161.2:c. | N/A | Genic Upstream Transcript Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | T=0.797 | C=0.203 |
| 1000Genomes | American | Sub | 694 | T=0.750 | C=0.250 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.533 | C=0.467 |
| 1000Genomes | Europe | Sub | 1006 | T=0.641 | C=0.359 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.653 | C=0.347 |
| 1000Genomes | South Asian | Sub | 978 | T=0.530 | C=0.470 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.658 | C=0.342 |
| The Genome Aggregation Database | African | Sub | 8698 | T=0.775 | C=0.225 |
| The Genome Aggregation Database | American | Sub | 836 | T=0.720 | C=0.280 |
| The Genome Aggregation Database | East Asian | Sub | 1604 | T=0.516 | C=0.484 |
| The Genome Aggregation Database | Europe | Sub | 18414 | T=0.607 | C=0.392 |
| The Genome Aggregation Database | Global | Study-wide | 29852 | T=0.655 | C=0.344 |
| The Genome Aggregation Database | Other | Sub | 300 | T=0.670 | C=0.330 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.717 | C=0.282 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.663 | C=0.337 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 24216088 | Dopa-decarboxylase gene polymorphisms affect the motor response to L-dopa in Parkinson's disease. | Devos D | Parkinsonism Relat Disord |
| 17184203 | DOPA decarboxylase gene is associated with nicotine dependence. | Zhang H | Pharmacogenomics |
| 25805645 | Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson's disease. | Moreau C | Brain |
| 21143251 | A candidate gene association study of alcohol consumption in young women. | Agrawal A | Alcohol Clin Exp Res |
| 25545355 | Genetic variants and early cigarette smoking and nicotine dependence phenotypes in adolescents. | O'Loughlin J | PLoS One |
| 27166759 | Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. | Yang J | Mol Psychiatry |
| 15879433 | Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence. | Ma JZ | Hum Mol Genet |
| 19184136 | Examination of association of genes in the serotonin system to autism. | Anderson BM | Neurogenetics |
| 25073638 | Polymorphisms in genes implicated in dopamine, serotonin and noradrenalin metabolism suggest association with cerebrospinal fluid monoamine metabolite concentrations in psychosis. | Andreou D | Behav Brain Funct |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs921451 | 0.001 | Drug response to nicotine | 15879433 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr7:50623285 | FIGNL1 | ENSG00000132436.7 | T>C | 1.0000e-28 | 105197 | Cerebellum |
| Chr7:50623285 | FIGNL1 | ENSG00000132436.7 | T>C | 1.5775e-13 | 105197 | Frontal_Cortex_BA9 |
| Chr7:50623285 | FIGNL1 | ENSG00000132436.7 | T>C | 2.3865e-7 | 105197 | Hypothalamus |
| Chr7:50623285 | FIGNL1 | ENSG00000132436.7 | T>C | 1.4382e-22 | 105197 | Cerebellar_Hemisphere |
| Chr7:50623285 | FIGNL1 | ENSG00000132436.7 | T>C | 1.0286e-8 | 105197 | Caudate_basal_ganglia |
| Chr7:50623285 | FIGNL1 | ENSG00000132436.7 | T>C | 1.3261e-8 | 105197 | Anterior_cingulate_cortex |
| 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 ) |
|---|---|---|---|---|
| chr7 | 50598960 | 50599691 | E067 | -23594 |
| chr7 | 50599710 | 50599919 | E067 | -23366 |
| chr7 | 50599948 | 50600033 | E067 | -23252 |
| chr7 | 50600073 | 50600144 | E067 | -23141 |
| chr7 | 50602342 | 50602965 | E068 | -20320 |
| chr7 | 50599710 | 50599919 | E069 | -23366 |
| chr7 | 50599948 | 50600033 | E069 | -23252 |
| chr7 | 50600073 | 50600144 | E069 | -23141 |
| chr7 | 50652602 | 50653144 | E069 | 29317 |
| chr7 | 50595823 | 50595915 | E070 | -27370 |
| chr7 | 50595987 | 50596159 | E070 | -27126 |
| chr7 | 50598960 | 50599691 | E070 | -23594 |
| chr7 | 50600073 | 50600144 | E070 | -23141 |
| chr7 | 50623847 | 50624736 | E070 | 562 |
| chr7 | 50624833 | 50625171 | E070 | 1548 |
| chr7 | 50625206 | 50625424 | E070 | 1921 |
| chr7 | 50625457 | 50625501 | E070 | 2172 |
| chr7 | 50628526 | 50629016 | E070 | 5241 |
| chr7 | 50628526 | 50629016 | E071 | 5241 |
| chr7 | 50628315 | 50628425 | E074 | 5030 |
| chr7 | 50628526 | 50629016 | E074 | 5241 |
| chr7 | 50598960 | 50599691 | E081 | -23594 |
| chr7 | 50599710 | 50599919 | E081 | -23366 |
| chr7 | 50599948 | 50600033 | E081 | -23252 |
| chr7 | 50628526 | 50629016 | E082 | 5241 |