rs11575522

Homo sapiens
C>T
DDC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0051 (1557/29984,GnomAD)
T=0073 (2131/29118,TOPMED)
T=0052 (262/5008,1000G)
T=0016 (63/3854,ALSPAC)
T=0012 (45/3708,TWINSUK)
chr7:50467697 (GRCh38.p7) (7p12.2)
AD
GWASdb2
3   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.50467697C>T
GRCh37.p13 chr 7NC_000007.13:g.50535395C>T
DDC RefSeqGeneNG_008742.1:g.102760G>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/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
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 Genome Aggregation DatabaseAfricanSub8722C=0.854T=0.146
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1618C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18504C=0.985T=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29984C=0.948T=0.051
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.926T=0.073
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
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
20732625Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.Neale BMJ Am Acad Child Adolesc Psychiatry

P-Value

SNP ID p-value Traits Study
rs115755224.45E-05alcohol consumption23953852

eQTL of rs11575522 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 rs11575522 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 )
chr75051687850516928E067-18467
chr75051696750517051E067-18344
chr75053637850536524E067983
chr75051687850516928E068-18467
chr75051696750517051E068-18344
chr75053637850536524E068983
chr75053653450536642E0681139
chr75053637850536524E069983
chr75053466650534741E070-654
chr75053476550534875E070-520
chr75053494450535196E070-199
chr75053521250535305E070-90
chr75053546950536370E07074
chr75053637850536524E071983
chr75053637850536524E072983
chr75053546950536370E07374
chr75053637850536524E073983
chr75051696750517051E074-18344
chr75053546950536370E07474
chr75053637850536524E074983
chr75053521250535305E081-90
chr75053546950536370E08174









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75051724950519075E067-16320
chr75051724950519075E068-16320
chr75051724950519075E069-16320
chr75051724950519075E070-16320
chr75051724950519075E071-16320
chr75051724950519075E072-16320
chr75051724950519075E073-16320
chr75051724950519075E074-16320
chr75051724950519075E081-16320
chr75051724950519075E082-16320