SNP Detail Info-rs6485172

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0231 (6943/29936,GnomAD)
A==0230 (6708/29118,TOPMED)
A==0277 (1388/5008,1000G)
A==0158 (608/3854,ALSPAC)
A==0146 (542/3708,TWINSUK)

Position: chr11:40019740 (GRCh38.p7) (11p12)

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 11	NC_000011.10:g.40019740A>G
GRCh37.p13 chr 11	NC_000011.9:g.40041290A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.391	G=0.609
1000Genomes	American	Sub	694	A=0.220	G=0.780
1000Genomes	East Asian	Sub	1008	A=0.386	G=0.614
1000Genomes	Europe	Sub	1006	A=0.168	G=0.832
1000Genomes	Global	Study-wide	5008	A=0.277	G=0.723
1000Genomes	South Asian	Sub	978	A=0.160	G=0.840
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.158	G=0.842
The Genome Aggregation Database	African	Sub	8710	A=0.336	G=0.664
The Genome Aggregation Database	American	Sub	838	A=0.220	G=0.780
The Genome Aggregation Database	East Asian	Sub	1610	A=0.403	G=0.597
The Genome Aggregation Database	Europe	Sub	18478	A=0.169	G=0.830
The Genome Aggregation Database	Global	Study-wide	29936	A=0.231	G=0.768
The Genome Aggregation Database	Other	Sub	300	A=0.130	G=0.870
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.230	G=0.769
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.146	G=0.854

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
rs6485172	0.00086	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

rs6485172