rs3735273

Homo sapiens
C>T
DDC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0257 (31232/121328,ExAC)
T=0277 (8309/29908,GnomAD)
T=0298 (8702/29118,TOPMED)
C==0282 (3678/13006,GO-ESP)
T=0308 (1540/5008,1000G)
T=0221 (853/3854,ALSPAC)
T=0237 (877/3708,TWINSUK)
chr7:50529166 (GRCh38.p7) (7p12.1)
ND
GWASdb2
3   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.50529166C>T
GRCh37.p13 chr 7NC_000007.13:g.50596864C>T
DDC RefSeqGeneNG_008742.1:g.41291G>A

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/AIntron 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
1000GenomesAfricanSub1322C=0.625T=0.375
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.608T=0.392
1000GenomesEuropeSub1006C=0.772T=0.228
1000GenomesGlobalStudy-wide5008C=0.692T=0.308
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.779T=0.221
The Exome Aggregation ConsortiumAmericanSub21980C=0.772T=0.227
The Exome Aggregation ConsortiumAsianSub25126C=0.653T=0.346
The Exome Aggregation ConsortiumEuropeSub73314C=0.764T=0.235
The Exome Aggregation ConsortiumGlobalStudy-wide121328C=0.742T=0.257
The Exome Aggregation ConsortiumOtherSub908C=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.701T=0.298
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.763T=0.237
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
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

P-Value

SNP ID p-value Traits Study
rs37352730.001Drug response to nicotine15879433

eQTL of rs3735273 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:50596864FIGNL1ENSG00000132436.7C>T1.0000e-2878776Cerebellum
Chr7:50596864FIGNL1ENSG00000132436.7C>T4.8760e-1378776Cortex
Chr7:50596864FIGNL1ENSG00000132436.7C>T1.4382e-2278776Cerebellar_Hemisphere
Chr7:50596864FIGNL1ENSG00000132436.7C>T1.0286e-878776Caudate_basal_ganglia
Chr7:50596864FIGNL1ENSG00000132436.7C>T5.5405e-678776Hippocampus
Chr7:50596864FIGNL1ENSG00000132436.7C>T9.4277e-678776Putamen_basal_ganglia

meQTL of rs3735273 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

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 )
chr75059896050599691E0672096
chr75059971050599919E0672846
chr75059994850600033E0673084
chr75060007350600144E0673209
chr75060234250602965E0685478
chr75059971050599919E0692846
chr75059994850600033E0693084
chr75060007350600144E0693209
chr75059582350595915E070-949
chr75059598750596159E070-705
chr75059896050599691E0702096
chr75060007350600144E0703209
chr75062384750624736E07026983
chr75062483350625171E07027969
chr75062520650625424E07028342
chr75062545750625501E07028593
chr75062852650629016E07031662
chr75062852650629016E07131662
chr75062831550628425E07431451
chr75062852650629016E07431662
chr75059896050599691E0812096
chr75059971050599919E0812846
chr75059994850600033E0813084
chr75062852650629016E08231662