SNP Detail Info-rs3120130

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0436 (13058/29898,GnomAD)
G=0495 (14438/29118,TOPMED)
G=0471 (2358/5008,1000G)
G=0353 (1360/3854,ALSPAC)
G=0352 (1304/3708,TWINSUK)

Position: chr10:53583694 (GRCh38.p7) (10q21.1)

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 10	NC_000010.11:g.53583694A>G
GRCh37.p13 chr 10	NC_000010.10:g.55343454A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.272	G=0.728
1000Genomes	American	Sub	694	A=0.670	G=0.330
1000Genomes	East Asian	Sub	1008	A=0.663	G=0.337
1000Genomes	Europe	Sub	1006	A=0.628	G=0.372
1000Genomes	Global	Study-wide	5008	A=0.529	G=0.471
1000Genomes	South Asian	Sub	978	A=0.540	G=0.460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.647	G=0.353
The Genome Aggregation Database	African	Sub	8704	A=0.350	G=0.650
The Genome Aggregation Database	American	Sub	834	A=0.730	G=0.270
The Genome Aggregation Database	East Asian	Sub	1612	A=0.687	G=0.313
The Genome Aggregation Database	Europe	Sub	18446	A=0.644	G=0.355
The Genome Aggregation Database	Global	Study-wide	29898	A=0.563	G=0.436
The Genome Aggregation Database	Other	Sub	302	A=0.640	G=0.360
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.504	G=0.495
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.648	G=0.352

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
rs3120130	0.000509	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

rs3120130