SNP Detail Info-rs7980084

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SLCO1B7 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0218 (6527/29856,GnomAD)
G=0215 (6276/29118,TOPMED)
G=0227 (1135/5008,1000G)
G=0225 (868/3854,ALSPAC)
G=0222 (825/3708,TWINSUK)

Position: chr12:21069946 (GRCh38.p7) (12p12.2)

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 12	NC_000012.12:g.21069946A>G
GRCh37.p13 chr 12	NC_000012.11:g.21222880A>G

Molecule type	Change	Amino acid[Codon]	SO Term
SLCO1B7 transcript	NM_001009562.4:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.884	G=0.116
1000Genomes	American	Sub	694	A=0.820	G=0.180
1000Genomes	East Asian	Sub	1008	A=0.533	G=0.467
1000Genomes	Europe	Sub	1006	A=0.750	G=0.250
1000Genomes	Global	Study-wide	5008	A=0.773	G=0.227
1000Genomes	South Asian	Sub	978	A=0.870	G=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.775	G=0.225
The Genome Aggregation Database	African	Sub	8700	A=0.867	G=0.133
The Genome Aggregation Database	American	Sub	830	A=0.820	G=0.180
The Genome Aggregation Database	East Asian	Sub	1610	A=0.517	G=0.483
The Genome Aggregation Database	Europe	Sub	18414	A=0.763	G=0.236
The Genome Aggregation Database	Global	Study-wide	29856	A=0.781	G=0.218
The Genome Aggregation Database	Other	Sub	302	A=0.720	G=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.784	G=0.215
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.778	G=0.222

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
rs7980084	0.000689	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

rs7980084