SNP Detail Info-rs2448709

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

LOC643542 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0151 (4532/29960,GnomAD)
T=0197 (5748/29118,TOPMED)
T=0172 (862/5008,1000G)
T=0104 (399/3854,ALSPAC)
T=0100 (369/3708,TWINSUK)

Position: chr18:67651299 (GRCh38.p7) (18q22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 18	NC_000018.10:g.67651299G>T
GRCh37.p13 chr 18	NC_000018.9:g.65318536G>T

Molecule type	Change	Amino acid[Codon]	SO Term
LOC643542 transcript	NR_033921.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.669	T=0.331
1000Genomes	American	Sub	694	G=0.910	T=0.090
1000Genomes	East Asian	Sub	1008	G=0.889	T=0.111
1000Genomes	Europe	Sub	1006	G=0.898	T=0.102
1000Genomes	Global	Study-wide	5008	G=0.828	T=0.172
1000Genomes	South Asian	Sub	978	G=0.850	T=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.896	T=0.104
The Genome Aggregation Database	African	Sub	8716	G=0.686	T=0.314
The Genome Aggregation Database	American	Sub	838	G=0.920	T=0.080
The Genome Aggregation Database	East Asian	Sub	1606	G=0.896	T=0.104
The Genome Aggregation Database	Europe	Sub	18498	G=0.917	T=0.083
The Genome Aggregation Database	Global	Study-wide	29960	G=0.848	T=0.151
The Genome Aggregation Database	Other	Sub	302	G=0.920	T=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.802	T=0.197
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.900	T=0.100

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
rs2448709	0.000773	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 )
chr18	65319533	65319995	E068	997
chr18	65319533	65319995	E070	997
chr18	65319533	65319995	E071	997
chr18	65319533	65319995	E074	997
chr18	65301228	65301299	E081	-17237
chr18	65301338	65301429	E081	-17107
chr18	65301613	65301725	E081	-16811
chr18	65301784	65301898	E081	-16638
chr18	65337106	65337793	E081	18570

rs2448709