SNP Detail Info-rs6874279

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

HCN1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0082 (2465/29940,GnomAD)
A=0120 (3520/29118,TOPMED)
A=0086 (430/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)

Position: chr5:45393159 (GRCh38.p7) (5p12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
HCN1 transcript	NM_021072.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.701	A=0.299
1000Genomes	American	Sub	694	G=0.980	A=0.020
1000Genomes	East Asian	Sub	1008	G=0.983	A=0.017
1000Genomes	Europe	Sub	1006	G=0.999	A=0.001
1000Genomes	Global	Study-wide	5008	G=0.914	A=0.086
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.999	A=0.001
The Genome Aggregation Database	African	Sub	8708	G=0.723	A=0.277
The Genome Aggregation Database	American	Sub	836	G=0.990	A=0.010
The Genome Aggregation Database	East Asian	Sub	1610	G=0.988	A=0.012
The Genome Aggregation Database	Europe	Sub	18484	G=0.999	A=0.001
The Genome Aggregation Database	Global	Study-wide	29940	G=0.917	A=0.082
The Genome Aggregation Database	Other	Sub	302	G=0.990	A=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.879	A=0.120
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=1.000	A=0.000

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
rs6874279	0.0000508	alcoholism	pha002891
rs6874279	0.0000508	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

rs6874279