SNP Detail Info-rs7293423

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0437 (13064/29894,GnomAD)
A=0493 (14361/29118,TOPMED)
A=0461 (2310/5008,1000G)
A=0366 (1412/3854,ALSPAC)
A=0366 (1358/3708,TWINSUK)

Position: chr5:46192118 (GRCh38.p7) (5p11)

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.46192118G>A
GRCh37.p13 chr 5	NC_000005.9:g.46192220G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.310	A=0.690
1000Genomes	American	Sub	694	G=0.660	A=0.340
1000Genomes	East Asian	Sub	1008	G=0.532	A=0.468
1000Genomes	Europe	Sub	1006	G=0.664	A=0.336
1000Genomes	Global	Study-wide	5008	G=0.539	A=0.461
1000Genomes	South Asian	Sub	978	G=0.640	A=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.634	A=0.366
The Genome Aggregation Database	African	Sub	8702	G=0.335	A=0.665
The Genome Aggregation Database	American	Sub	836	G=0.660	A=0.340
The Genome Aggregation Database	East Asian	Sub	1606	G=0.485	A=0.515
The Genome Aggregation Database	Europe	Sub	18448	G=0.670	A=0.329
The Genome Aggregation Database	Global	Study-wide	29894	G=0.563	A=0.437
The Genome Aggregation Database	Other	Sub	302	G=0.680	A=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.506	A=0.493
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.634	A=0.366

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
rs7293423	0.000371	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	-0.0836148609967316	3.2068e-29

rs7293423