SNP Detail Info-rs2827182

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0061 (1812/29416,GnomAD)
T=0049 (1452/29118,TOPMED)
T=0137 (685/5008,1000G)
T=0058 (223/3854,ALSPAC)
T=0062 (230/3708,TWINSUK)

Position: chr21:21986113 (GRCh38.p7) (21q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.21986113C>T
GRCh37.p13 chr 21	NC_000021.8:g.23358432C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.984	T=0.016
1000Genomes	American	Sub	694	C=0.910	T=0.090
1000Genomes	East Asian	Sub	1008	C=0.662	T=0.338
1000Genomes	Europe	Sub	1006	C=0.943	T=0.057
1000Genomes	Global	Study-wide	5008	C=0.863	T=0.137
1000Genomes	South Asian	Sub	978	C=0.790	T=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.942	T=0.058
The Genome Aggregation Database	African	Sub	8672	C=0.972	T=0.028
The Genome Aggregation Database	American	Sub	798	C=0.930	T=0.070
The Genome Aggregation Database	East Asian	Sub	1614	C=0.642	T=0.358
The Genome Aggregation Database	Europe	Sub	18036	C=0.948	T=0.051
The Genome Aggregation Database	Global	Study-wide	29416	C=0.938	T=0.061
The Genome Aggregation Database	Other	Sub	296	C=0.990	T=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.950	T=0.049
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.938	T=0.062

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
rs2827182	0.00031	alcohol dependence(early age of onset)	20201924
rs2827182	0.00033	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

rs2827182