rs11575302

Homo sapiens
G>A
DDC : Synonymous Variant
DDC-AS1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0025 (2994/115756,ExAC)
A=0049 (1477/29976,GnomAD)
A=0072 (2118/29118,TOPMED)
G==0057 (741/13004,GO-ESP)
A=0045 (224/5008,1000G)
A=0016 (61/3854,ALSPAC)
A=0012 (45/3708,TWINSUK)
chr7:50539996 (GRCh38.p7) (7p12.1)
AD
GWASdb2
4   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.50539996G>A
GRCh37.p13 chr 7NC_000007.13:g.50607694G>A
DDC RefSeqGeneNG_008742.1:g.30461C>T

Gene: DDC, dopa decarboxylase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DDC transcript variant 3NM_001242886.1:c.N/AIntron Variant
DDC transcript variant 5NM_001242888.1:c.N/AIntron Variant
DDC transcript variant 1NM_001082971.1:c....NM_001082971.1:c.234C>TA [GCC]> A [GCT]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 1NP_001076440.1:p....NP_001076440.1:p.Ala78=A [Ala]> A [Ala]Synonymous Variant
DDC transcript variant 2NM_000790.3:c.234C>TA [GCC]> A [GCT]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 1NP_000781.1:p.Ala78=A [Ala]> A [Ala]Synonymous Variant
DDC transcript variant 4NM_001242887.1:c....NM_001242887.1:c.234C>TA [GCC]> A [GCT]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 3NP_001229816.1:p....NP_001229816.1:p.Ala78=A [Ala]> A [Ala]Synonymous Variant
DDC transcript variant 6NM_001242889.1:c....NM_001242889.1:c.234C>TA [GCC]> A [GCT]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 5NP_001229818.1:p....NP_001229818.1:p.Ala78=A [Ala]> A [Ala]Synonymous Variant
DDC transcript variant 7NM_001242890.1:c....NM_001242890.1:c.234C>TA [GCC]> A [GCT]Coding Sequence Variant
aromatic-L-amino-acid decarboxylase isoform 6NP_001229819.1:p....NP_001229819.1:p.Ala78=A [Ala]> A [Ala]Synonymous Variant
DDC transcript variant X2XM_005271745.4:c.N/AIntron Variant
DDC transcript variant X1XM_011515161.2:c.N/AGenic Upstream Transcript Variant

Gene: DDC-AS1, DDC antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DDC-AS1 transcriptNR_033845.1:n.344G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.859A=0.141
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.983A=0.017
1000GenomesGlobalStudy-wide5008G=0.955A=0.045
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.984A=0.016
The Exome Aggregation ConsortiumAmericanSub21052G=0.928A=0.071
The Exome Aggregation ConsortiumAsianSub24106G=0.990A=0.009
The Exome Aggregation ConsortiumEuropeSub69762G=0.982A=0.017
The Exome Aggregation ConsortiumGlobalStudy-wide115756G=0.974A=0.025
The Exome Aggregation ConsortiumOtherSub836G=0.980A=0.020
The Genome Aggregation DatabaseAfricanSub8726G=0.863A=0.137
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18488G=0.985A=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29976G=0.950A=0.049
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.927A=0.072
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.988A=0.012
PMID Title Author Journal
21881118Genetic variants and susceptibility to neurological complications following West Nile virus infection.Loeb MJ Infect Dis
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
27884205Whole genome sequence analysis of serum amino acid levels.Yu BGenome Biol
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
rs115753022.87E-05alcohol consumption23953852

eQTL of rs11575302 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 rs11575302 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 )
chr75059896050599691E067-8003
chr75059971050599919E067-7775
chr75059994850600033E067-7661
chr75060007350600144E067-7550
chr75060234250602965E068-4729
chr75059971050599919E069-7775
chr75059994850600033E069-7661
chr75060007350600144E069-7550
chr75065260250653144E06944908
chr75059582350595915E070-11779
chr75059598750596159E070-11535
chr75059896050599691E070-8003
chr75060007350600144E070-7550
chr75062384750624736E07016153
chr75062483350625171E07017139
chr75062520650625424E07017512
chr75062545750625501E07017763
chr75062852650629016E07020832
chr75062852650629016E07120832
chr75062831550628425E07420621
chr75062852650629016E07420832
chr75059896050599691E081-8003
chr75059971050599919E081-7775
chr75059994850600033E081-7661
chr75062852650629016E08220832