SNP Detail Info-rs1390052

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0273 (8186/29962,GnomAD)
C=0230 (6719/29118,TOPMED)
C=0177 (885/5008,1000G)
C=0309 (1190/3854,ALSPAC)
C=0320 (1186/3708,TWINSUK)

Position: chr8:15498875 (GRCh38.p7) (8p22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 13 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.15498875A>C
GRCh37.p13 chr 8	NC_000008.10:g.15356384A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.871	C=0.129
1000Genomes	American	Sub	694	A=0.760	C=0.240
1000Genomes	East Asian	Sub	1008	A=0.904	C=0.096
1000Genomes	Europe	Sub	1006	A=0.697	C=0.303
1000Genomes	Global	Study-wide	5008	A=0.823	C=0.177
1000Genomes	South Asian	Sub	978	A=0.850	C=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.691	C=0.309
The Genome Aggregation Database	African	Sub	8720	A=0.832	C=0.168
The Genome Aggregation Database	American	Sub	836	A=0.780	C=0.220
The Genome Aggregation Database	East Asian	Sub	1622	A=0.922	C=0.078
The Genome Aggregation Database	Europe	Sub	18482	A=0.656	C=0.343
The Genome Aggregation Database	Global	Study-wide	29962	A=0.726	C=0.273
The Genome Aggregation Database	Other	Sub	302	A=0.800	C=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.769	C=0.230
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.680	C=0.320

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
rs1390052	0.00008	Alcohol dependence (early age of onset)	20201924
rs1390052	0.0000802	alcoholism	pha002893
rs1390052	0.00053	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	15399532	15399720	E070	43148
chr8	15399532	15399720	E081	43148
chr8	15399748	15400011	E081	43364
chr8	15400531	15400665	E081	44147
chr8	15399532	15399720	E082	43148
chr8	15399748	15400011	E082	43364

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	15397226	15398673	E067	40842
chr8	15397226	15398673	E068	40842
chr8	15397226	15398673	E069	40842
chr8	15397226	15398673	E070	40842
chr8	15398693	15399060	E070	42309
chr8	15397226	15398673	E071	40842
chr8	15397226	15398673	E072	40842
chr8	15398693	15399060	E072	42309
chr8	15397226	15398673	E073	40842
chr8	15397226	15398673	E074	40842
chr8	15397226	15398673	E081	40842
chr8	15397226	15398673	E082	40842
chr8	15398693	15399060	E082	42309

rs1390052