rs11575549

Homo sapiens
C>A / C>G / C>T
DDC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0038 (1146/29904,GnomAD)
T=0052 (1526/29118,TOPMED)
T=0039 (193/5008,1000G)
T=0016 (62/3854,ALSPAC)
T=0012 (44/3708,TWINSUK)
chr7:50462479 (GRCh38.p7) (7p12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.50462479C>A
GRCh38.p7 chr 7NC_000007.14:g.50462479C>G
GRCh38.p7 chr 7NC_000007.14:g.50462479C>T
GRCh37.p13 chr 7NC_000007.13:g.50530177C>A
GRCh37.p13 chr 7NC_000007.13:g.50530177C>G
GRCh37.p13 chr 7NC_000007.13:g.50530177C>T
DDC RefSeqGeneNG_008742.1:g.107978G>T
DDC RefSeqGeneNG_008742.1:g.107978G>C
DDC RefSeqGeneNG_008742.1:g.107978G>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=0.880T=0.120
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.984T=0.016
1000GenomesGlobalStudy-wide5008C=0.961T=0.039
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 DatabaseAfricanSub8716C=0.899A=0.000
The Genome Aggregation DatabaseAmericanSub832C=0.990A=0.00,
The Genome Aggregation DatabaseEast AsianSub1622C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18434C=0.985A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.961A=0.000
The Genome Aggregation DatabaseOtherSub300C=1.000A=0.00,
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

P-Value

SNP ID p-value Traits Study
rs115755493.49E-05alcohol consumption23953852

eQTL of rs11575549 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 rs11575549 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 )
chr78308086083081326E067-46659
chr78309741083098115E067-29870
chr78308086083081326E068-46659
chr78309741083098115E068-29870
chr78309741083098115E069-29870
chr78308086083081326E070-46659
chr78308143783081517E070-46468
chr78308152383081699E070-46286
chr78308172583081839E070-46146
chr78310594483106126E070-21859
chr78308086083081326E071-46659
chr78308086083081326E072-46659
chr78309741083098115E072-29870
chr78309830183098839E072-29146
chr78309885383099021E072-28964
chr78308086083081326E074-46659
chr78308143783081517E074-46468
chr78308152383081699E074-46286
chr78308172583081839E074-46146
chr78309741083098115E074-29870
chr78308143783081517E081-46468
chr78308152383081699E081-46286
chr78311639483116650E081-11335
chr78311690883117667E081-10318
chr78308086083081326E082-46659
chr78308143783081517E082-46468
chr78308152383081699E082-46286
chr78308172583081839E082-46146