SNP Detail Info-rs2329172

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0238 (7135/29918,GnomAD)
A=0219 (6393/29118,TOPMED)
A=0206 (1033/5008,1000G)

Position: chr13:80845244 (GRCh38.p7) (13q31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 11 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.80845244G>A
GRCh37.p13 chr 13	NC_000013.10:g.81419379G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.989	A=0.011
1000Genomes	American	Sub	694	G=0.610	A=0.390
1000Genomes	East Asian	Sub	1008	G=0.683	A=0.317
1000Genomes	Europe	Sub	1006	G=0.700	A=0.300
1000Genomes	Global	Study-wide	5008	G=0.794	A=0.206
1000Genomes	South Asian	Sub	978	G=0.870	A=0.130
The Genome Aggregation Database	African	Sub	8722	G=0.942	A=0.058
The Genome Aggregation Database	American	Sub	834	G=0.660	A=0.340
The Genome Aggregation Database	East Asian	Sub	1616	G=0.644	A=0.356
The Genome Aggregation Database	Europe	Sub	18446	G=0.692	A=0.307
The Genome Aggregation Database	Global	Study-wide	29918	G=0.761	A=0.238
The Genome Aggregation Database	Other	Sub	300	G=0.680	A=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.780	A=0.219

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
rs2329172	0.000314	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	81462642	81463153	E071	43263
chr13	81458081	81458154	E081	38702
chr13	81458176	81458490	E081	38797
chr13	81458628	81459150	E081	39249
chr13	81459187	81459237	E081	39808
chr13	81459358	81459425	E081	39979
chr13	81458081	81458154	E082	38702
chr13	81458176	81458490	E082	38797
chr13	81458628	81459150	E082	39249
chr13	81459187	81459237	E082	39808
chr13	81459358	81459425	E082	39979

rs2329172