SNP Detail Info-rs4287749

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LINC01317 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0184 (5535/29946,GnomAD)
A=0164 (4796/29116,TOPMED)
A=0139 (694/5008,1000G)
A=0229 (883/3854,ALSPAC)
A=0224 (832/3708,TWINSUK)

Position: chr2:33744320 (GRCh38.p7) (2p22.3)

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 2	NC_000002.12:g.33744320G>A
GRCh37.p13 chr 2	NC_000002.11:g.33969387G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01317 transcript	NR_126403.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.881	A=0.119
1000Genomes	American	Sub	694	G=0.780	A=0.220
1000Genomes	East Asian	Sub	1008	G=0.993	A=0.007
1000Genomes	Europe	Sub	1006	G=0.809	A=0.191
1000Genomes	Global	Study-wide	5008	G=0.861	A=0.139
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.771	A=0.229
The Genome Aggregation Database	African	Sub	8716	G=0.870	A=0.130
The Genome Aggregation Database	American	Sub	838	G=0.800	A=0.200
The Genome Aggregation Database	East Asian	Sub	1622	G=0.999	A=0.001
The Genome Aggregation Database	Europe	Sub	18468	G=0.773	A=0.226
The Genome Aggregation Database	Global	Study-wide	29946	G=0.815	A=0.184
The Genome Aggregation Database	Other	Sub	302	G=0.850	A=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.835	A=0.164
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.776	A=0.224

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
rs4287749	0.000904	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 )
chr2	33929515	33929638	E070	-39749
chr2	33929756	33929890	E070	-39497

rs4287749