SNP Detail Info-rs4592792

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0179 (5361/29944,GnomAD)
G=0229 (6688/29118,TOPMED)
G=0193 (968/5008,1000G)
G=0110 (424/3854,ALSPAC)
G=0107 (397/3708,TWINSUK)

Position: chr2:191667291 (GRCh38.p7) (2q32.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 19 Enhancers around

Promoter: 16 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.191667291A>G
GRCh37.p13 chr 2	NC_000002.11:g.192532017A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.606	G=0.394
1000Genomes	American	Sub	694	A=0.840	G=0.160
1000Genomes	East Asian	Sub	1008	A=0.831	G=0.169
1000Genomes	Europe	Sub	1006	A=0.899	G=0.101
1000Genomes	Global	Study-wide	5008	A=0.807	G=0.193
1000Genomes	South Asian	Sub	978	A=0.930	G=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.890	G=0.110
The Genome Aggregation Database	African	Sub	8708	A=0.643	G=0.357
The Genome Aggregation Database	American	Sub	830	A=0.860	G=0.140
The Genome Aggregation Database	East Asian	Sub	1622	A=0.847	G=0.153
The Genome Aggregation Database	Europe	Sub	18482	A=0.899	G=0.100
The Genome Aggregation Database	Global	Study-wide	29944	A=0.821	G=0.179
The Genome Aggregation Database	Other	Sub	302	A=0.900	G=0.100
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.770	G=0.229
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.893	G=0.107

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs4592792	0.000753	alcohol dependence	24277619

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 )
chr2	192560304	192561177	E067	28287
chr2	192569862	192570277	E067	37845
chr2	192555431	192555607	E068	23414
chr2	192555626	192556009	E068	23609
chr2	192556068	192556378	E068	24051
chr2	192560304	192561177	E068	28287
chr2	192560304	192561177	E069	28287
chr2	192555431	192555607	E071	23414
chr2	192555626	192556009	E071	23609
chr2	192556068	192556378	E071	24051
chr2	192560304	192561177	E071	28287
chr2	192569862	192570277	E071	37845
chr2	192555431	192555607	E072	23414
chr2	192560304	192561177	E072	28287
chr2	192555431	192555607	E073	23414
chr2	192555626	192556009	E073	23609
chr2	192556068	192556378	E073	24051
chr2	192560304	192561177	E074	28287
chr2	192569862	192570277	E074	37845

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	192541834	192544053	E067	9817
chr2	192541834	192544053	E068	9817
chr2	192544091	192544204	E068	12074
chr2	192541834	192544053	E069	9817
chr2	192541834	192544053	E070	9817
chr2	192541834	192544053	E071	9817
chr2	192544091	192544204	E071	12074
chr2	192544307	192544382	E071	12290
chr2	192544400	192544487	E071	12383
chr2	192544547	192544831	E071	12530
chr2	192541834	192544053	E072	9817
chr2	192541834	192544053	E073	9817
chr2	192541834	192544053	E074	9817
chr2	192541834	192544053	E081	9817
chr2	192541834	192544053	E082	9817
chr2	192544091	192544204	E082	12074

rs4592792