SNP Detail Info-rs718463

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0211 (6339/29938,GnomAD)
A=0223 (6499/29118,TOPMED)
A=0215 (1078/5008,1000G)
A=0267 (1028/3854,ALSPAC)
A=0273 (1012/3708,TWINSUK)

Position: chr1:110853984 (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.110853984G>A
GRCh37.p13 chr 1	NC_000001.10:g.111396606G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.869	A=0.131
1000Genomes	American	Sub	694	G=0.700	A=0.300
1000Genomes	East Asian	Sub	1008	G=0.883	A=0.117
1000Genomes	Europe	Sub	1006	G=0.716	A=0.284
1000Genomes	Global	Study-wide	5008	G=0.785	A=0.215
1000Genomes	South Asian	Sub	978	G=0.700	A=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.733	A=0.267
The Genome Aggregation Database	African	Sub	8704	G=0.861	A=0.139
The Genome Aggregation Database	American	Sub	836	G=0.690	A=0.310
The Genome Aggregation Database	East Asian	Sub	1618	G=0.879	A=0.121
The Genome Aggregation Database	Europe	Sub	18478	G=0.753	A=0.246
The Genome Aggregation Database	Global	Study-wide	29938	G=0.788	A=0.211
The Genome Aggregation Database	Other	Sub	302	G=0.610	A=0.390
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.776	A=0.223
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.727	A=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
rs718463	0.0000528	alcoholism	pha002892
rs718463	0.000053	alcohol dependence(early age of onset)	20201924
rs718463	0.00023	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:111396606	CD53	ENSG00000143119.8	G>A	1.5723e-7	-19169	Frontal_Cortex_BA9
Chr1:111396606	CD53	ENSG00000143119.8	G>A	8.9309e-6	-19169	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	17042
chr1	111414054	111414126	E074	17448

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	111416015	111416216	E067	19409
chr1	111416227	111416294	E067	19621
chr1	111416347	111416913	E067	19741
chr1	111416015	111416216	E068	19409
chr1	111416227	111416294	E068	19621
chr1	111416347	111416913	E068	19741
chr1	111416919	111417581	E068	20313
chr1	111417654	111418436	E068	21048
chr1	111416347	111416913	E069	19741
chr1	111415395	111415943	E071	18789
chr1	111416015	111416216	E071	19409
chr1	111416227	111416294	E071	19621
chr1	111416347	111416913	E071	19741
chr1	111416919	111417581	E071	20313
chr1	111417654	111418436	E071	21048
chr1	111418524	111418574	E071	21918
chr1	111416347	111416913	E072	19741
chr1	111416919	111417581	E072	20313
chr1	111417654	111418436	E072	21048
chr1	111418524	111418574	E072	21918
chr1	111416015	111416216	E074	19409
chr1	111416227	111416294	E074	19621
chr1	111416347	111416913	E074	19741
chr1	111417654	111418436	E074	21048
chr1	111418524	111418574	E074	21918

rs718463