SNP Detail Info-rs2700648

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0319 (9528/29844,GnomAD)
A=0339 (9893/29118,TOPMED)
A=0351 (1758/5008,1000G)
A=0275 (1059/3854,ALSPAC)
A=0276 (1024/3708,TWINSUK)

Position: chr3:99388839 (GRCh38.p7) (3q12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.99388839G>A
GRCh37.p13 chr 3	NC_000003.11:g.99107683G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.547	A=0.453
1000Genomes	American	Sub	694	G=0.700	A=0.300
1000Genomes	East Asian	Sub	1008	G=0.671	A=0.329
1000Genomes	Europe	Sub	1006	G=0.761	A=0.239
1000Genomes	Global	Study-wide	5008	G=0.649	A=0.351
1000Genomes	South Asian	Sub	978	G=0.620	A=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.725	A=0.275
The Genome Aggregation Database	African	Sub	8700	G=0.557	A=0.443
The Genome Aggregation Database	American	Sub	838	G=0.720	A=0.280
The Genome Aggregation Database	East Asian	Sub	1578	G=0.695	A=0.305
The Genome Aggregation Database	Europe	Sub	18426	G=0.732	A=0.267
The Genome Aggregation Database	Global	Study-wide	29844	G=0.680	A=0.319
The Genome Aggregation Database	Other	Sub	302	G=0.920	A=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.660	A=0.339
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.724	A=0.276

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
20202923	A genome-wide association study of alcohol dependence.	Bierut LJ	Proc Natl Acad Sci U S A

SNP ID	p-value	Traits	Study
rs2700648	0.00082	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr3:99107683	ST3GAL6-AS1	ENSG00000239445.1	G>A	9.5219e-15	656188	Cerebellar_Hemisphere

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs2700648