SNP Detail Info-rs4146540

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0112 (3369/29912,GnomAD)
G=0134 (3914/29116,TOPMED)
G=0138 (692/5008,1000G)
G=0060 (233/3854,ALSPAC)
G=0070 (259/3708,TWINSUK)

Position: chr13:55262595 (GRCh38.p7) (13q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.55262595A>G
GRCh37.p13 chr 13	NC_000013.10:g.55836730A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.775	G=0.225
1000Genomes	American	Sub	694	A=0.780	G=0.220
1000Genomes	East Asian	Sub	1008	A=0.905	G=0.095
1000Genomes	Europe	Sub	1006	A=0.949	G=0.051
1000Genomes	Global	Study-wide	5008	A=0.862	G=0.138
1000Genomes	South Asian	Sub	978	A=0.900	G=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.940	G=0.060
The Genome Aggregation Database	African	Sub	8720	A=0.796	G=0.204
The Genome Aggregation Database	American	Sub	836	A=0.770	G=0.230
The Genome Aggregation Database	East Asian	Sub	1576	A=0.906	G=0.094
The Genome Aggregation Database	Europe	Sub	18478	A=0.932	G=0.067
The Genome Aggregation Database	Global	Study-wide	29912	A=0.887	G=0.112
The Genome Aggregation Database	Other	Sub	302	A=0.970	G=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.865	G=0.134
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.930	G=0.070

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
rs4146540	0.000535	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 )
chr13	55789111	55789268	E070	-47462
chr13	55791493	55791643	E070	-45087

rs4146540