SNP Detail Info-rs13258743

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105375909 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0325 (9719/29870,GnomAD)
A=0299 (8715/29118,TOPMED)
A=0297 (1489/5008,1000G)
A=0350 (1350/3854,ALSPAC)
A=0355 (1317/3708,TWINSUK)

Position: chr8:77413400 (GRCh38.p7) (8q21.13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.77413400G>A
GRCh37.p13 chr 8	NC_000008.10:g.78325636G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375909 transcript	XR_001745963.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.800	A=0.200
1000Genomes	American	Sub	694	G=0.610	A=0.390
1000Genomes	East Asian	Sub	1008	G=0.633	A=0.367
1000Genomes	Europe	Sub	1006	G=0.667	A=0.333
1000Genomes	Global	Study-wide	5008	G=0.703	A=0.297
1000Genomes	South Asian	Sub	978	G=0.750	A=0.250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.650	A=0.350
The Genome Aggregation Database	African	Sub	8694	G=0.759	A=0.241
The Genome Aggregation Database	American	Sub	828	G=0.600	A=0.400
The Genome Aggregation Database	East Asian	Sub	1608	G=0.604	A=0.396
The Genome Aggregation Database	Europe	Sub	18438	G=0.642	A=0.357
The Genome Aggregation Database	Global	Study-wide	29870	G=0.674	A=0.325
The Genome Aggregation Database	Other	Sub	302	G=0.800	A=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.700	A=0.299
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.645	A=0.355

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
rs13258743	0.000344	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

rs13258743