SNP Detail Info-rs6685538

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0164 (4930/29938,GnomAD)
A=0168 (4906/29118,TOPMED)
A=0170 (849/5008,1000G)
A=0219 (843/3854,ALSPAC)
A=0224 (832/3708,TWINSUK)

Position: chr1:110851000 (GRCh38.p7) (1p13.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 25 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.110851000G>A
GRCh37.p13 chr 1	NC_000001.10:g.111393622G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.939	A=0.061
1000Genomes	American	Sub	694	G=0.720	A=0.280
1000Genomes	East Asian	Sub	1008	G=0.884	A=0.116
1000Genomes	Europe	Sub	1006	G=0.769	A=0.231
1000Genomes	Global	Study-wide	5008	G=0.830	A=0.170
1000Genomes	South Asian	Sub	978	G=0.770	A=0.230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.781	A=0.219
The Genome Aggregation Database	African	Sub	8724	G=0.929	A=0.071
The Genome Aggregation Database	American	Sub	836	G=0.730	A=0.270
The Genome Aggregation Database	East Asian	Sub	1608	G=0.878	A=0.122
The Genome Aggregation Database	Europe	Sub	18470	G=0.794	A=0.205
The Genome Aggregation Database	Global	Study-wide	29938	G=0.835	A=0.164
The Genome Aggregation Database	Other	Sub	300	G=0.700	A=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.831	A=0.168
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.776	A=0.224

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs6685538	0.0004	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:111393622	CD53	ENSG00000143119.8	G>A	1.5723e-7	-22153	Frontal_Cortex_BA9
Chr1:111393622	CD53	ENSG00000143119.8	G>A	8.9309e-6	-22153	Cortex

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	111413648	111414008	E074	20026
chr1	111414054	111414126	E074	20432

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	111416015	111416216	E067	22393
chr1	111416227	111416294	E067	22605
chr1	111416347	111416913	E067	22725
chr1	111416015	111416216	E068	22393
chr1	111416227	111416294	E068	22605
chr1	111416347	111416913	E068	22725
chr1	111416919	111417581	E068	23297
chr1	111417654	111418436	E068	24032
chr1	111416347	111416913	E069	22725
chr1	111415395	111415943	E071	21773
chr1	111416015	111416216	E071	22393
chr1	111416227	111416294	E071	22605
chr1	111416347	111416913	E071	22725
chr1	111416919	111417581	E071	23297
chr1	111417654	111418436	E071	24032
chr1	111418524	111418574	E071	24902
chr1	111416347	111416913	E072	22725
chr1	111416919	111417581	E072	23297
chr1	111417654	111418436	E072	24032
chr1	111418524	111418574	E072	24902
chr1	111416015	111416216	E074	22393
chr1	111416227	111416294	E074	22605
chr1	111416347	111416913	E074	22725
chr1	111417654	111418436	E074	24032
chr1	111418524	111418574	E074	24902

rs6685538