SNP Detail Info-rs11575543

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

DDC : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0050 (1503/29970,GnomAD)
A=0069 (2036/29118,TOPMED)
A=0051 (255/5008,1000G)
A=0016 (63/3854,ALSPAC)
A=0012 (45/3708,TWINSUK)

Position: chr7:50463171 (GRCh38.p7) (7p12.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 22 Enhancers around

Promoter: 10 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
DDC transcript variant 2	NM_000790.3:c.	N/A	Intron Variant
DDC transcript variant 1	NM_001082971.1:c.	N/A	Intron Variant
DDC transcript variant 3	NM_001242886.1:c.	N/A	Intron Variant
DDC transcript variant 4	NM_001242887.1:c.	N/A	Intron Variant
DDC transcript variant 5	NM_001242888.1:c.	N/A	Intron Variant
DDC transcript variant 6	NM_001242889.1:c.	N/A	Intron Variant
DDC transcript variant 7	NM_001242890.1:c.	N/A	Genic Downstream Transcript Variant
DDC transcript variant X2	XM_005271745.4:c.	N/A	Intron Variant
DDC transcript variant X1	XM_011515161.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.836	A=0.164
1000Genomes	American	Sub	694	G=0.980	A=0.020
1000Genomes	East Asian	Sub	1008	G=0.999	A=0.001
1000Genomes	Europe	Sub	1006	G=0.984	A=0.016
1000Genomes	Global	Study-wide	5008	G=0.949	A=0.051
1000Genomes	South Asian	Sub	978	G=0.990	A=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.984	A=0.016
The Genome Aggregation Database	African	Sub	8726	G=0.860	A=0.140
The Genome Aggregation Database	American	Sub	838	G=0.980	A=0.020
The Genome Aggregation Database	East Asian	Sub	1622	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18482	G=0.985	A=0.014
The Genome Aggregation Database	Global	Study-wide	29970	G=0.949	A=0.050
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.930	A=0.069
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.988	A=0.012

PMID	Title	Author	Journal
20732903	Predicting sensation seeking from dopamine genes. A candidate-system approach.	Derringer J	Psychol Sci
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res
20732625	Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.	Neale BM	J Am Acad Child Adolesc Psychiatry

SNP ID	p-value	Traits	Study
rs11575543	3.57E-05	alcohol consumption	23953852

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	50516878	50516928	E067	-13941
chr7	50516967	50517051	E067	-13818
chr7	50536378	50536524	E067	5509
chr7	50516878	50516928	E068	-13941
chr7	50516967	50517051	E068	-13818
chr7	50536378	50536524	E068	5509
chr7	50536534	50536642	E068	5665
chr7	50536378	50536524	E069	5509
chr7	50534666	50534741	E070	3797
chr7	50534765	50534875	E070	3896
chr7	50534944	50535196	E070	4075
chr7	50535212	50535305	E070	4343
chr7	50535469	50536370	E070	4600
chr7	50536378	50536524	E071	5509
chr7	50536378	50536524	E072	5509
chr7	50535469	50536370	E073	4600
chr7	50536378	50536524	E073	5509
chr7	50516967	50517051	E074	-13818
chr7	50535469	50536370	E074	4600
chr7	50536378	50536524	E074	5509
chr7	50535212	50535305	E081	4343
chr7	50535469	50536370	E081	4600

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	50517249	50519075	E067	-11794
chr7	50517249	50519075	E068	-11794
chr7	50517249	50519075	E069	-11794
chr7	50517249	50519075	E070	-11794
chr7	50517249	50519075	E071	-11794
chr7	50517249	50519075	E072	-11794
chr7	50517249	50519075	E073	-11794
chr7	50517249	50519075	E074	-11794
chr7	50517249	50519075	E081	-11794
chr7	50517249	50519075	E082	-11794

rs11575543