rs1451371

Homo sapiens
T>C
DDC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0386 (11569/29926,GnomAD)
C=0377 (10982/29118,TOPMED)
C=0390 (1954/5008,1000G)
C=0440 (1697/3854,ALSPAC)
C=0438 (1624/3708,TWINSUK)
chr7:50485353 (GRCh38.p7) (7p12.2)
ND
GWASdb2
5   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.50485353T>C
GRCh37.p13 chr 7NC_000007.13:g.50553051T>C
DDC RefSeqGeneNG_008742.1:g.85104A>G

Gene: DDC, dopa decarboxylase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DDC transcript variant 2NM_000790.3:c.N/AIntron Variant
DDC transcript variant 1NM_001082971.1:c.N/AIntron Variant
DDC transcript variant 3NM_001242886.1:c.N/AIntron Variant
DDC transcript variant 4NM_001242887.1:c.N/AIntron Variant
DDC transcript variant 5NM_001242888.1:c.N/AIntron Variant
DDC transcript variant 6NM_001242889.1:c.N/AIntron Variant
DDC transcript variant 7NM_001242890.1:c.N/AGenic Downstream Transcript Variant
DDC transcript variant X2XM_005271745.4:c.N/AIntron Variant
DDC transcript variant X1XM_011515161.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.710C=0.290
1000GenomesAmericanSub694T=0.470C=0.530
1000GenomesEast AsianSub1008T=0.549C=0.451
1000GenomesEuropeSub1006T=0.594C=0.406
1000GenomesGlobalStudy-wide5008T=0.610C=0.390
1000GenomesSouth AsianSub978T=0.650C=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.560C=0.440
The Genome Aggregation DatabaseAfricanSub8726T=0.712C=0.288
The Genome Aggregation DatabaseAmericanSub838T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1610T=0.570C=0.430
The Genome Aggregation DatabaseEuropeSub18450T=0.579C=0.420
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.613C=0.386
The Genome Aggregation DatabaseOtherSub302T=0.500C=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.622C=0.377
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.562C=0.438
PMID Title Author Journal
26044620Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.Reyes-Gibby CCBMC Syst Biol
19221445Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits.Giegling INeuropsychobiology
17184203DOPA decarboxylase gene is associated with nicotine dependence.Zhang HPharmacogenomics
15879433Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence.Ma JZHum Mol Genet
17948905Dopa decarboxylase and tyrosine hydroxylase gene variants in suicidal behavior.Giegling IAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs14513710.001Drug response to nicotine15879433

eQTL of rs1451371 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:50553051FIGNL1ENSG00000132436.7T>C1.0000e-2834963Cerebellum
Chr7:50553051FIGNL1ENSG00000132436.7T>C1.5775e-1334963Frontal_Cortex_BA9
Chr7:50553051FIGNL1ENSG00000132436.7T>C4.8760e-1334963Cortex
Chr7:50553051FIGNL1ENSG00000132436.7T>C1.4382e-2234963Cerebellar_Hemisphere
Chr7:50553051FIGNL1ENSG00000132436.7T>C1.0286e-834963Caudate_basal_ganglia
Chr7:50553051FIGNL1ENSG00000132436.7T>C5.5405e-634963Hippocampus
Chr7:50553051FIGNL1ENSG00000132436.7T>C9.4277e-634963Putamen_basal_ganglia
Chr7:50553051FIGNL1ENSG00000132436.7T>C1.3261e-834963Anterior_cingulate_cortex
Chr7:50553051FIGNL1ENSG00000132436.7T>C3.1156e-734963Nucleus_accumbens_basal_ganglia
Chr7:50553051FIGNL1ENSG00000132436.7T>C2.3548e-934963Amygdala

meQTL of rs1451371 in Fetal Brain

Probe ID Position Gene beta p-value
cg18232548chr7:50535776DDC-0.009692855334234921.0874e-10

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr75051687850516928E067-36123
chr75051696750517051E067-36000
chr75053637850536524E067-16527
chr75059896050599691E06745909
chr75059971050599919E06746659
chr75059994850600033E06746897
chr75060007350600144E06747022
chr75051687850516928E068-36123
chr75051696750517051E068-36000
chr75053637850536524E068-16527
chr75053653450536642E068-16409
chr75060234250602965E06849291
chr75053637850536524E069-16527
chr75059971050599919E06946659
chr75059994850600033E06946897
chr75060007350600144E06947022
chr75053466650534741E070-18310
chr75053476550534875E070-18176
chr75053494450535196E070-17855
chr75053521250535305E070-17746
chr75053546950536370E070-16681
chr75059582350595915E07042772
chr75059598750596159E07042936
chr75059896050599691E07045909
chr75060007350600144E07047022
chr75053637850536524E071-16527
chr75053637850536524E072-16527
chr75053546950536370E073-16681
chr75053637850536524E073-16527
chr75051696750517051E074-36000
chr75053546950536370E074-16681
chr75053637850536524E074-16527
chr75053521250535305E081-17746
chr75053546950536370E081-16681
chr75059896050599691E08145909
chr75059971050599919E08146659
chr75059994850600033E08146897









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75051724950519075E067-33976
chr75051724950519075E068-33976
chr75051724950519075E069-33976
chr75051724950519075E070-33976
chr75051724950519075E071-33976
chr75051724950519075E072-33976
chr75051724950519075E073-33976
chr75051724950519075E074-33976
chr75051724950519075E081-33976
chr75051724950519075E082-33976