SNP Detail Info-rs1339934

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0414 (12399/29882,GnomAD)
A==0475 (13841/29118,TOPMED)
A==0417 (2089/5008,1000G)
A==0426 (1643/3854,ALSPAC)
A==0419 (1553/3708,TWINSUK)

Position: chr1:17909965 (GRCh38.p7) (1p36.13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 50 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.17909965A>G
GRCh37.p13 chr 1	NC_000001.10:g.18236459A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.499	G=0.501
1000Genomes	American	Sub	694	A=0.530	G=0.470
1000Genomes	East Asian	Sub	1008	A=0.331	G=0.669
1000Genomes	Europe	Sub	1006	A=0.404	G=0.596
1000Genomes	Global	Study-wide	5008	A=0.417	G=0.583
1000Genomes	South Asian	Sub	978	A=0.330	G=0.670
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.426	G=0.574
The Genome Aggregation Database	African	Sub	8682	A=0.515	G=0.485
The Genome Aggregation Database	American	Sub	836	A=0.480	G=0.520
The Genome Aggregation Database	East Asian	Sub	1614	A=0.291	G=0.709
The Genome Aggregation Database	Europe	Sub	18448	A=0.373	G=0.626
The Genome Aggregation Database	Global	Study-wide	29882	A=0.414	G=0.585
The Genome Aggregation Database	Other	Sub	302	A=0.560	G=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.475	G=0.524
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.419	G=0.581

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs1339934	0.000918	alcohol dependence	24277619

eQTL of rs1339934 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs1339934 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	18214386	18214563	E070	-21896
chr1	18249678	18249878	E070	13219
chr1	18250077	18250573	E070	13618
chr1	18251153	18251488	E070	14694
chr1	18251807	18252000	E070	15348
chr1	18252216	18252338	E070	15757
chr1	18252634	18252730	E070	16175
chr1	18254589	18254785	E070	18130
chr1	18255588	18255670	E070	19129
chr1	18255830	18255870	E070	19371
chr1	18275174	18275303	E070	38715
chr1	18275445	18275557	E070	38986
chr1	18281980	18282049	E070	45521
chr1	18282450	18282598	E070	45991
chr1	18284230	18284417	E070	47771
chr1	18284496	18284619	E070	48037
chr1	18246978	18247062	E073	10519
chr1	18247168	18247218	E073	10709
chr1	18201026	18202016	E081	-34443
chr1	18214386	18214563	E081	-21896
chr1	18214754	18214854	E081	-21605
chr1	18240686	18240856	E081	4227
chr1	18246021	18246279	E081	9562
chr1	18246478	18246608	E081	10019
chr1	18246978	18247062	E081	10519
chr1	18247168	18247218	E081	10709
chr1	18247389	18248222	E081	10930
chr1	18249408	18249595	E081	12949
chr1	18250077	18250573	E081	13618
chr1	18251153	18251488	E081	14694
chr1	18251807	18252000	E081	15348
chr1	18252216	18252338	E081	15757
chr1	18252634	18252730	E081	16175
chr1	18254589	18254785	E081	18130
chr1	18255588	18255670	E081	19129
chr1	18275174	18275303	E081	38715
chr1	18284230	18284417	E081	47771
chr1	18284496	18284619	E081	48037
chr1	18201026	18202016	E082	-34443
chr1	18246478	18246608	E082	10019
chr1	18246978	18247062	E082	10519
chr1	18247168	18247218	E082	10709
chr1	18250077	18250573	E082	13618
chr1	18251153	18251488	E082	14694
chr1	18251807	18252000	E082	15348
chr1	18252216	18252338	E082	15757
chr1	18254589	18254785	E082	18130
chr1	18255588	18255670	E082	19129
chr1	18255830	18255870	E082	19371
chr1	18257485	18257579	E082	21026

rs1339934