rs11575542

Homo sapiens
C>T
DDC : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0026 (3184/119178,ExAC)
T=0051 (1551/29980,GnomAD)
T=0072 (2107/29118,TOPMED)
C==0060 (792/13006,GO-ESP)
T=0052 (261/5008,1000G)
T=0016 (63/3854,ALSPAC)
T=0012 (45/3708,TWINSUK)
chr7:50463289 (GRCh38.p7) (7p12.2)
AD
GWASdb2
4   publication(s)
See rs on genome
22 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.50463289C>T
GRCh37.p13 chr 7NC_000007.13:g.50530987C>T
DDC RefSeqGeneNG_008742.1:g.107168G>A

Gene: DDC, dopa decarboxylase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DDC transcript variant 7NM_001242890.1:c.N/AGenic Downstream Transcript Variant
DDC transcript variant 1NM_001082971.1:c....NM_001082971.1:c.1385G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 1NP_001076440.1:p....NP_001076440.1:p.Arg462GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant 2NM_000790.3:c.138...NM_000790.3:c.1385G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 1NP_000781.1:p.Arg...NP_000781.1:p.Arg462GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant 3NM_001242886.1:c....NM_001242886.1:c.1271G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 2NP_001229815.1:p....NP_001229815.1:p.Arg424GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant 4NM_001242887.1:c....NM_001242887.1:c.1241G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 3NP_001229816.1:p....NP_001229816.1:p.Arg414GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant 5NM_001242888.1:c....NM_001242888.1:c.1151G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 4NP_001229817.1:p....NP_001229817.1:p.Arg384GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant 6NM_001242889.1:c....NM_001242889.1:c.1106G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 5NP_001229818.1:p....NP_001229818.1:p.Arg369GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant X1XM_011515161.2:c....XM_011515161.2:c.1328G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform X1XP_011513463.2:p....XP_011513463.2:p.Arg443GlnR [Arg]> Q [Gln]Missense Variant
DDC transcript variant X2XM_005271745.4:c....XM_005271745.4:c.1271G>AR [CGG]> Q [CAG]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform X2XP_005271802.1:p....XP_005271802.1:p.Arg424GlnR [Arg]> Q [Gln]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.831T=0.169
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.984T=0.016
1000GenomesGlobalStudy-wide5008C=0.948T=0.052
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.984T=0.016
The Exome Aggregation ConsortiumAmericanSub21498C=0.923T=0.076
The Exome Aggregation ConsortiumAsianSub24706C=0.990T=0.009
The Exome Aggregation ConsortiumEuropeSub72086C=0.982T=0.017
The Exome Aggregation ConsortiumGlobalStudy-wide119178C=0.973T=0.026
The Exome Aggregation ConsortiumOtherSub888C=0.980T=0.020
The Genome Aggregation DatabaseAfricanSub8722C=0.856T=0.144
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18496C=0.985T=0.015
The Genome Aggregation DatabaseGlobalStudy-wide29980C=0.948T=0.051
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.927T=0.072
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.988T=0.012
PMID Title Author Journal
20732903Predicting sensation seeking from dopamine genes. A candidate-system approach.Derringer JPsychol Sci
21083670Limited associations of dopamine system genes with alcohol dependence and related traits in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD).Hack LMAlcohol Clin Exp Res
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
19156168Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.Need ACEur J Hum Genet

P-Value

SNP ID p-value Traits Study
rs115755424.17E-05alcohol consumption23953852

eQTL of rs11575542 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs11575542 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 )
chr75051687850516928E067-14059
chr75051696750517051E067-13936
chr75053637850536524E0675391
chr75051687850516928E068-14059
chr75051696750517051E068-13936
chr75053637850536524E0685391
chr75053653450536642E0685547
chr75053637850536524E0695391
chr75053466650534741E0703679
chr75053476550534875E0703778
chr75053494450535196E0703957
chr75053521250535305E0704225
chr75053546950536370E0704482
chr75053637850536524E0715391
chr75053637850536524E0725391
chr75053546950536370E0734482
chr75053637850536524E0735391
chr75051696750517051E074-13936
chr75053546950536370E0744482
chr75053637850536524E0745391
chr75053521250535305E0814225
chr75053546950536370E0814482









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75051724950519075E067-11912
chr75051724950519075E068-11912
chr75051724950519075E069-11912
chr75051724950519075E070-11912
chr75051724950519075E071-11912
chr75051724950519075E072-11912
chr75051724950519075E073-11912
chr75051724950519075E074-11912
chr75051724950519075E081-11912
chr75051724950519075E082-11912