SNP Detail Info-rs1869324

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

THSD7B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0091 (2731/29948,GnomAD)
A=0063 (1833/29118,TOPMED)
A=0038 (192/5008,1000G)
A=0138 (532/3854,ALSPAC)
A=0130 (482/3708,TWINSUK)

Position: chr2:137469872 (GRCh38.p7) (2q22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.137469872G>A
GRCh37.p13 chr 2	NC_000002.11:g.138227442G>A

Molecule type	Change	Amino acid[Codon]	SO Term
THSD7B transcript	NM_001316349.1:c.	N/A	Intron Variant
THSD7B transcript variant X1	XM_017005049.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.994	A=0.006
1000Genomes	American	Sub	694	G=0.960	A=0.040
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.884	A=0.116
1000Genomes	Global	Study-wide	5008	G=0.962	A=0.038
1000Genomes	South Asian	Sub	978	G=0.960	A=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.862	A=0.138
The Genome Aggregation Database	African	Sub	8724	G=0.979	A=0.021
The Genome Aggregation Database	American	Sub	838	G=0.960	A=0.040
The Genome Aggregation Database	East Asian	Sub	1610	G=0.999	A=0.001
The Genome Aggregation Database	Europe	Sub	18474	G=0.864	A=0.135
The Genome Aggregation Database	Global	Study-wide	29948	G=0.908	A=0.091
The Genome Aggregation Database	Other	Sub	302	G=0.970	A=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.937	A=0.063
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.870	A=0.130

PMID	Title	Author	Journal
21703634	A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.	Wang KS	J Psychiatr Res
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
21956439	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Zuo L	Neuropsychopharmacology

SNP ID	p-value	Traits	Study
rs1869324	0.000000471	alcohol dependence	21703634
rs1869324	0.00054	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

rs1869324