SNP Detail Info-rs7293378

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0391 (11712/29918,GnomAD)
G==0421 (12278/29118,TOPMED)
G==0412 (2063/5008,1000G)
G==0364 (1401/3854,ALSPAC)
G==0363 (1346/3708,TWINSUK)

Position: chr5:50192402 (GRCh38.p7) (5q11.1)

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 5	NC_000005.10:g.50192402G>A
GRCh37.p13 chr 5	NC_000005.9:g.49488236G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.502	A=0.498
1000Genomes	American	Sub	694	G=0.330	A=0.670
1000Genomes	East Asian	Sub	1008	G=0.483	A=0.517
1000Genomes	Europe	Sub	1006	G=0.331	A=0.669
1000Genomes	Global	Study-wide	5008	G=0.412	A=0.588
1000Genomes	South Asian	Sub	978	G=0.360	A=0.640
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.364	A=0.636
The Genome Aggregation Database	African	Sub	8712	G=0.516	A=0.484
The Genome Aggregation Database	American	Sub	838	G=0.340	A=0.660
The Genome Aggregation Database	East Asian	Sub	1604	G=0.522	A=0.478
The Genome Aggregation Database	Europe	Sub	18464	G=0.324	A=0.675
The Genome Aggregation Database	Global	Study-wide	29918	G=0.391	A=0.608
The Genome Aggregation Database	Other	Sub	300	G=0.320	A=0.680
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.421	A=0.578
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.363	A=0.637

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
rs7293378	0.000164	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
cg15950743	chr5:49708521	EMB	-0.08883063749868	1.0654e-35

rs7293378