rs11575537

Homo sapiens
C>T
DDC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0038 (1142/29962,GnomAD)
T=0052 (1524/29118,TOPMED)
T=0038 (192/5008,1000G)
T=0016 (61/3854,ALSPAC)
T=0012 (44/3708,TWINSUK)
chr7:50464187 (GRCh38.p7) (7p12.2)
AD
GWASdb2
2   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.50464187C>T
GRCh37.p13 chr 7NC_000007.13:g.50531885C>T
DDC RefSeqGeneNG_008742.1:g.106270G>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=0.881T=0.119
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.984T=0.016
1000GenomesGlobalStudy-wide5008C=0.962T=0.038
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 DatabaseAfricanSub8720C=0.900T=0.100
The Genome Aggregation DatabaseAmericanSub836C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18484C=0.986T=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.961T=0.038
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.947T=0.052
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.988T=0.012
PMID Title Author Journal
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
rs115755373.44E-05alcohol consumption23953852

eQTL of rs11575537 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 rs11575537 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 )
chr75051687850516928E067-14957
chr75051696750517051E067-14834
chr75053637850536524E0674493
chr75051687850516928E068-14957
chr75051696750517051E068-14834
chr75053637850536524E0684493
chr75053653450536642E0684649
chr75053637850536524E0694493
chr75053466650534741E0702781
chr75053476550534875E0702880
chr75053494450535196E0703059
chr75053521250535305E0703327
chr75053546950536370E0703584
chr75053637850536524E0714493
chr75053637850536524E0724493
chr75053546950536370E0733584
chr75053637850536524E0734493
chr75051696750517051E074-14834
chr75053546950536370E0743584
chr75053637850536524E0744493
chr75053521250535305E0813327
chr75053546950536370E0813584









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75051724950519075E067-12810
chr75051724950519075E068-12810
chr75051724950519075E069-12810
chr75051724950519075E070-12810
chr75051724950519075E071-12810
chr75051724950519075E072-12810
chr75051724950519075E073-12810
chr75051724950519075E074-12810
chr75051724950519075E081-12810
chr75051724950519075E082-12810