SNP Detail Info-rs8099273

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SLC14A2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0292 (8765/29926,GnomAD)
G=0321 (9357/29118,TOPMED)
G=0291 (1457/5008,1000G)
G=0207 (799/3854,ALSPAC)
G=0206 (762/3708,TWINSUK)

Position: chr18:45524247 (GRCh38.p7) (18q12.3)

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.45524247A>G
GRCh37.p13 chr 18	NC_000018.9:g.43104212A>G

Molecule type	Change	Amino acid[Codon]	SO Term
SLC14A2 transcript variant 2	NM_001242692.1:c.	N/A	Intron Variant
SLC14A2 transcript variant 1	NM_007163.3:c.	N/A	Genic Upstream Transcript Variant
SLC14A2 transcript variant X1	XM_017026015.1:c.	N/A	Intron Variant
SLC14A2 transcript variant X2	XM_017026016.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.501	G=0.499
1000Genomes	American	Sub	694	A=0.720	G=0.280
1000Genomes	East Asian	Sub	1008	A=0.890	G=0.110
1000Genomes	Europe	Sub	1006	A=0.759	G=0.241
1000Genomes	Global	Study-wide	5008	A=0.709	G=0.291
1000Genomes	South Asian	Sub	978	A=0.740	G=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.793	G=0.207
The Genome Aggregation Database	African	Sub	8704	A=0.532	G=0.468
The Genome Aggregation Database	American	Sub	836	A=0.730	G=0.270
The Genome Aggregation Database	East Asian	Sub	1618	A=0.919	G=0.081
The Genome Aggregation Database	Europe	Sub	18466	A=0.768	G=0.231
The Genome Aggregation Database	Global	Study-wide	29926	A=0.707	G=0.292
The Genome Aggregation Database	Other	Sub	302	A=0.770	G=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.678	G=0.321
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.794	G=0.206

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
rs8099273	0.0000666	alcoholism	pha002891
rs8099273	0.0000666	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	43083514	43083564	E068	-20648
chr18	43090696	43090854	E070	-13358
chr18	43096714	43097794	E070	-6418
chr18	43078273	43078630	E081	-25582
chr18	43078771	43078833	E081	-25379
chr18	43078834	43078914	E081	-25298
chr18	43144821	43144995	E081	40609
chr18	43145124	43145215	E081	40912
chr18	43144821	43144995	E082	40609

rs8099273