SNP Detail Info-rs1387616

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0137 (4101/29922,GnomAD)
A==0169 (4946/29118,TOPMED)
A==0178 (891/5008,1000G)
A==0070 (271/3854,ALSPAC)
A==0076 (282/3708,TWINSUK)

Position: chr21:19454882 (GRCh38.p7) (21q21.1)

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 21	NC_000021.9:g.19454882A>G
GRCh37.p13 chr 21	NC_000021.8:g.20827199A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.307	G=0.693
1000Genomes	American	Sub	694	A=0.170	G=0.830
1000Genomes	East Asian	Sub	1008	A=0.121	G=0.879
1000Genomes	Europe	Sub	1006	A=0.079	G=0.921
1000Genomes	Global	Study-wide	5008	A=0.178	G=0.822
1000Genomes	South Asian	Sub	978	A=0.170	G=0.830
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.070	G=0.930
The Genome Aggregation Database	African	Sub	8710	A=0.285	G=0.715
The Genome Aggregation Database	American	Sub	834	A=0.180	G=0.820
The Genome Aggregation Database	East Asian	Sub	1614	A=0.113	G=0.887
The Genome Aggregation Database	Europe	Sub	18462	A=0.067	G=0.932
The Genome Aggregation Database	Global	Study-wide	29922	A=0.137	G=0.862
The Genome Aggregation Database	Other	Sub	302	A=0.130	G=0.870
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.169	G=0.830
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.076	G=0.924

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs1387616	5.6E-05	alcoholism (heaviness of drinking)	21529783

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

rs1387616