SNP Detail Info-rs2769493

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105370255 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0117 (3521/29852,GnomAD)
A=0136 (3962/29116,TOPMED)
A=0178 (890/5008,1000G)
A=0091 (351/3854,ALSPAC)
A=0099 (368/3708,TWINSUK)

Position: chr13:70784055 (GRCh38.p7) (13q21.33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.70784055G>A
GRCh37.p13 chr 13	NC_000013.10:g.71358187G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370255 transcript variant X1	XR_942058.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.834	A=0.166
1000Genomes	American	Sub	694	G=0.890	A=0.110
1000Genomes	East Asian	Sub	1008	G=0.750	A=0.250
1000Genomes	Europe	Sub	1006	G=0.900	A=0.100
1000Genomes	Global	Study-wide	5008	G=0.822	A=0.178
1000Genomes	South Asian	Sub	978	G=0.760	A=0.240
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.909	A=0.091
The Genome Aggregation Database	African	Sub	8696	G=0.845	A=0.155
The Genome Aggregation Database	American	Sub	836	G=0.870	A=0.130
The Genome Aggregation Database	East Asian	Sub	1582	G=0.764	A=0.236
The Genome Aggregation Database	Europe	Sub	18436	G=0.909	A=0.090
The Genome Aggregation Database	Global	Study-wide	29852	G=0.882	A=0.117
The Genome Aggregation Database	Other	Sub	302	G=0.920	A=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.863	A=0.136
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.901	A=0.099

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
rs2769493	0.000212	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	71321094	71321144	E081	-37043
chr13	71321337	71321387	E081	-36800
chr13	71321405	71321679	E081	-36508

rs2769493