rs11575340

Homo sapiens
G>A / G>T
DDC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0049 (1486/29964,GnomAD)
T=0073 (2132/29118,TOPMED)
T=0045 (227/5008,1000G)
T=0016 (61/3854,ALSPAC)
T=0012 (45/3708,TWINSUK)
chr7:50528773 (GRCh38.p7) (7p12.1)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.50528773G>A
GRCh38.p7 chr 7NC_000007.14:g.50528773G>T
GRCh37.p13 chr 7NC_000007.13:g.50596471G>A
GRCh37.p13 chr 7NC_000007.13:g.50596471G>T
DDC RefSeqGeneNG_008742.1:g.41684C>T
DDC RefSeqGeneNG_008742.1:g.41684C>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
1000GenomesAfricanSub1322G=0.856T=0.144
1000GenomesAmericanSub694G=0.990T=0.010
1000GenomesEast AsianSub1008G=0.999T=0.001
1000GenomesEuropeSub1006G=0.983T=0.017
1000GenomesGlobalStudy-wide5008G=0.955T=0.045
1000GenomesSouth AsianSub978G=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.984T=0.016
The Genome Aggregation DatabaseAfricanSub8710G=0.861A=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.00,
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18492G=0.985A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29964G=0.950A=0.000
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.926T=0.073
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=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
rs115753404.64E-05alcohol consumption23953852

eQTL of rs11575340 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 rs11575340 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.