SNP Detail Info-rs4728701

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ABCB1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0031 (929/29662,GnomAD)
A==0022 (663/29118,TOPMED)
A==0028 (139/5008,1000G)
A==0044 (171/3854,ALSPAC)
A==0041 (153/3708,TWINSUK)

Position: chr7:87542737 (GRCh38.p7) (7q21.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ABCB1 transcript variant 3	NM_000927.4:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.002	G=0.998
1000Genomes	American	Sub	694	A=0.030	G=0.970
1000Genomes	East Asian	Sub	1008	A=0.004	G=0.996
1000Genomes	Europe	Sub	1006	A=0.049	G=0.951
1000Genomes	Global	Study-wide	5008	A=0.028	G=0.972
1000Genomes	South Asian	Sub	978	A=0.060	G=0.940
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.044	G=0.956
The Genome Aggregation Database	African	Sub	8652	A=0.008	G=0.992
The Genome Aggregation Database	American	Sub	834	A=0.030	G=0.970
The Genome Aggregation Database	East Asian	Sub	1618	A=0.000	G=1.000
The Genome Aggregation Database	Europe	Sub	18256	A=0.045	G=0.954
The Genome Aggregation Database	Global	Study-wide	29662	A=0.031	G=0.968
The Genome Aggregation Database	Other	Sub	302	A=0.020	G=0.980
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.022	G=0.977
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.041	G=0.959

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
rs4728701	0.00079	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 )
chr7	87159232	87159773	E069	-12280
chr7	87154399	87154458	E070	-17595
chr7	87159232	87159773	E074	-12280

rs4728701