SNP Detail Info-rs9593569

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105370283 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0176 (5274/29882,GnomAD)
A=0241 (7041/29118,TOPMED)
A=0173 (868/5008,1000G)
A=0105 (403/3854,ALSPAC)
A=0100 (371/3708,TWINSUK)

Position: chr13:81567486 (GRCh38.p7) (13q31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.81567486G>A
GRCh37.p13 chr 13	NC_000013.10:g.82141621G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370283 transcript	XR_942125.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.526	A=0.474
1000Genomes	American	Sub	694	G=0.880	A=0.120
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.901	A=0.099
1000Genomes	Global	Study-wide	5008	G=0.827	A=0.173
1000Genomes	South Asian	Sub	978	G=0.940	A=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.895	A=0.105
The Genome Aggregation Database	African	Sub	8700	G=0.559	A=0.441
The Genome Aggregation Database	American	Sub	832	G=0.880	A=0.120
The Genome Aggregation Database	East Asian	Sub	1616	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18432	G=0.928	A=0.071
The Genome Aggregation Database	Global	Study-wide	29882	G=0.823	A=0.176
The Genome Aggregation Database	Other	Sub	302	G=0.950	A=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.758	A=0.241
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.900	A=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
rs9593569	0.000142	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 )
chr13	82125227	82125283	E074	-16338
chr13	82125389	82125443	E074	-16178
chr13	82151703	82152053	E081	10082
chr13	82152084	82152170	E081	10463

rs9593569