SNP Detail Info-rs1530730

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0324 (9692/29840,GnomAD)
G==0315 (9191/29118,TOPMED)
G==0237 (1189/5008,1000G)
G==0338 (1301/3854,ALSPAC)
G==0326 (1210/3708,TWINSUK)

Position: chr4:63978785 (GRCh38.p7) (4q13.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.63978785G>A
GRCh37.p13 chr 4	NC_000004.11:g.64844503G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.323	A=0.677
1000Genomes	American	Sub	694	G=0.220	A=0.780
1000Genomes	East Asian	Sub	1008	G=0.077	A=0.923
1000Genomes	Europe	Sub	1006	G=0.383	A=0.617
1000Genomes	Global	Study-wide	5008	G=0.237	A=0.763
1000Genomes	South Asian	Sub	978	G=0.150	A=0.850
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.338	A=0.662
The Genome Aggregation Database	African	Sub	8706	G=0.311	A=0.689
The Genome Aggregation Database	American	Sub	830	G=0.280	A=0.720
The Genome Aggregation Database	East Asian	Sub	1612	G=0.099	A=0.901
The Genome Aggregation Database	Europe	Sub	18392	G=0.353	A=0.646
The Genome Aggregation Database	Global	Study-wide	29840	G=0.324	A=0.675
The Genome Aggregation Database	Other	Sub	300	G=0.320	A=0.680
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.315	A=0.684
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.326	A=0.674

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
rs1530730	0.000911	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

rs1530730