SNP Detail Info-rs4245803

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0201 (6030/29918,GnomAD)
A=0167 (4874/29116,TOPMED)
A=0255 (1276/5008,1000G)
A=0223 (861/3854,ALSPAC)
A=0214 (793/3708,TWINSUK)

Position: chr2:45347067 (GRCh38.p7) (2p21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.45347067G>A
GRCh37.p13 chr 2	NC_000002.11:g.45574206G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.958	A=0.042
1000Genomes	American	Sub	694	G=0.780	A=0.220
1000Genomes	East Asian	Sub	1008	G=0.449	A=0.551
1000Genomes	Europe	Sub	1006	G=0.777	A=0.223
1000Genomes	Global	Study-wide	5008	G=0.745	A=0.255
1000Genomes	South Asian	Sub	978	G=0.710	A=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.777	A=0.223
The Genome Aggregation Database	African	Sub	8712	G=0.924	A=0.076
The Genome Aggregation Database	American	Sub	834	G=0.750	A=0.250
The Genome Aggregation Database	East Asian	Sub	1604	G=0.390	A=0.610
The Genome Aggregation Database	Europe	Sub	18466	G=0.778	A=0.222
The Genome Aggregation Database	Global	Study-wide	29918	G=0.798	A=0.201
The Genome Aggregation Database	Other	Sub	302	G=0.750	A=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.832	A=0.167
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.786	A=0.214

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
rs4245803	0.00043	alcohol dependence	20201924

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	45527263	45527492	E070	-46714
chr2	45528525	45528791	E070	-45415
chr2	45528836	45529012	E070	-45194
chr2	45529095	45529327	E070	-44879
chr2	45579658	45579708	E070	5452
chr2	45579796	45580031	E070	5590
chr2	45580037	45580146	E070	5831
chr2	45580729	45580802	E070	6523
chr2	45580938	45581483	E070	6732

rs4245803