SNP Detail Info-rs453456

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105378814 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0387 (11551/29812,GnomAD)
G==0441 (12862/29118,TOPMED)
G==0439 (2198/5008,1000G)
G==0329 (1268/3854,ALSPAC)
G==0341 (1264/3708,TWINSUK)

Position: chr1:82651686 (GRCh38.p7) (1p31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.82651686G>A
GRCh37.p13 chr 1	NC_000001.10:g.83117369G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105378814 transcript variant X2	XR_947533.2:n.	N/A	Intron Variant
LOC105378814 transcript variant X1	XR_947532.2:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.549	A=0.451
1000Genomes	American	Sub	694	G=0.390	A=0.610
1000Genomes	East Asian	Sub	1008	G=0.480	A=0.520
1000Genomes	Europe	Sub	1006	G=0.384	A=0.616
1000Genomes	Global	Study-wide	5008	G=0.439	A=0.561
1000Genomes	South Asian	Sub	978	G=0.340	A=0.660
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.329	A=0.671
The Genome Aggregation Database	African	Sub	8698	G=0.521	A=0.479
The Genome Aggregation Database	American	Sub	830	G=0.380	A=0.620
The Genome Aggregation Database	East Asian	Sub	1582	G=0.460	A=0.540
The Genome Aggregation Database	Europe	Sub	18402	G=0.317	A=0.682
The Genome Aggregation Database	Global	Study-wide	29812	G=0.387	A=0.612
The Genome Aggregation Database	Other	Sub	300	G=0.440	A=0.560
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.441	A=0.558
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.341	A=0.659

PMID	Title	Author	Journal
21703634	A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.	Wang KS	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs453456	2.04E-05	alcohol dependence	21703634

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 )
chr1	83072334	83072540	E070	-44829
chr1	83072334	83072540	E081	-44829

rs453456