SNP Detail Info-rs1016620

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0391 (11714/29916,GnomAD)
A==0421 (12276/29118,TOPMED)
A==0409 (2050/5008,1000G)
A==0363 (1399/3854,ALSPAC)
A==0364 (1348/3708,TWINSUK)

Position: chr5:50490763 (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.50490763A>G
GRCh37.p13 chr 5	NC_000005.9:g.49786597A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.500	G=0.500
1000Genomes	American	Sub	694	A=0.330	G=0.670
1000Genomes	East Asian	Sub	1008	A=0.474	G=0.526
1000Genomes	Europe	Sub	1006	A=0.330	G=0.670
1000Genomes	Global	Study-wide	5008	A=0.409	G=0.591
1000Genomes	South Asian	Sub	978	A=0.360	G=0.640
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.363	G=0.637
The Genome Aggregation Database	African	Sub	8696	A=0.519	G=0.481
The Genome Aggregation Database	American	Sub	838	A=0.340	G=0.660
The Genome Aggregation Database	East Asian	Sub	1616	A=0.516	G=0.484
The Genome Aggregation Database	Europe	Sub	18464	A=0.324	G=0.675
The Genome Aggregation Database	Global	Study-wide	29916	A=0.391	G=0.608
The Genome Aggregation Database	Other	Sub	302	A=0.320	G=0.680
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.421	G=0.578
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.364	G=0.636

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
rs1016620	0.000098	alcoholism	pha002891
rs1016620	0.000098	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

rs1016620