SNP Detail Info-rs6701134

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0205 (6157/29920,GnomAD)
G=0214 (6247/29118,TOPMED)
G=0209 (1049/5008,1000G)
G=0267 (1028/3854,ALSPAC)
G=0273 (1013/3708,TWINSUK)

Position: chr1:110864277 (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.110864277A>G
GRCh37.p13 chr 1	NC_000001.10:g.111406899A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.893	G=0.107
1000Genomes	American	Sub	694	A=0.700	G=0.300
1000Genomes	East Asian	Sub	1008	A=0.883	G=0.117
1000Genomes	Europe	Sub	1006	A=0.715	G=0.285
1000Genomes	Global	Study-wide	5008	A=0.791	G=0.209
1000Genomes	South Asian	Sub	978	A=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.733	G=0.267
The Genome Aggregation Database	African	Sub	8714	A=0.880	G=0.120
The Genome Aggregation Database	American	Sub	836	A=0.690	G=0.310
The Genome Aggregation Database	East Asian	Sub	1612	A=0.879	G=0.121
The Genome Aggregation Database	Europe	Sub	18456	A=0.754	G=0.245
The Genome Aggregation Database	Global	Study-wide	29920	A=0.794	G=0.205
The Genome Aggregation Database	Other	Sub	302	A=0.610	G=0.390
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.785	G=0.214
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.727	G=0.273

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
rs6701134	0.000066	alcohol dependence(early age of onset)	20201924
rs6701134	0.0000665	alcoholism	pha002892
rs6701134	0.00029	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:111406899	CD53	ENSG00000143119.8	A>G	1.5723e-7	-8876	Frontal_Cortex_BA9
Chr1:111406899	CD53	ENSG00000143119.8	A>G	8.9309e-6	-8876	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	6749
chr1	111414054	111414126	E074	7155

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	111416015	111416216	E067	9116
chr1	111416227	111416294	E067	9328
chr1	111416347	111416913	E067	9448
chr1	111416015	111416216	E068	9116
chr1	111416227	111416294	E068	9328
chr1	111416347	111416913	E068	9448
chr1	111416919	111417581	E068	10020
chr1	111417654	111418436	E068	10755
chr1	111416347	111416913	E069	9448
chr1	111415395	111415943	E071	8496
chr1	111416015	111416216	E071	9116
chr1	111416227	111416294	E071	9328
chr1	111416347	111416913	E071	9448
chr1	111416919	111417581	E071	10020
chr1	111417654	111418436	E071	10755
chr1	111418524	111418574	E071	11625
chr1	111416347	111416913	E072	9448
chr1	111416919	111417581	E072	10020
chr1	111417654	111418436	E072	10755
chr1	111418524	111418574	E072	11625
chr1	111416015	111416216	E074	9116
chr1	111416227	111416294	E074	9328
chr1	111416347	111416913	E074	9448
chr1	111417654	111418436	E074	10755
chr1	111418524	111418574	E074	11625

rs6701134