rs7005715

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

DLGAP2 : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0418 (12526/29916,GnomAD)
G==0378 (11027/29118,TOPMED)
G==0355 (1776/5008,1000G)
A=0447 (1722/3854,ALSPAC)
A=0434 (1610/3708,TWINSUK)

Position: chr8:1701794 (GRCh38.p7) (8p23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 64 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.1701794G>A
GRCh37.p13 chr 8	NC_000008.10:g.1649960G>A
DLGAP2 RefSeqGene	NG_009409.1:g.205392G>A
GRCh38.p7 chr 8 alt locus HSCHR8_5_CTG1	NT_187654.1:g.311061G>A
GRCh38.p7 chr 8 alt locus HSCHR8_7_CTG1	NT_187680.1:g.114456G>A

Gene: DLGAP2, discs large homolog associated protein 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DLGAP2 transcript variant 1	NM_004745.4:c.	N/A	3 Prime UTR Variant
DLGAP2 transcript variant 2	NM_001277161.1:c.	N/A	3 Prime UTR Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.188	A=0.812
1000Genomes	American	Sub	694	G=0.340	A=0.660
1000Genomes	East Asian	Sub	1008	G=0.324	A=0.676
1000Genomes	Europe	Sub	1006	G=0.568	A=0.432
1000Genomes	Global	Study-wide	5008	G=0.355	A=0.645
1000Genomes	South Asian	Sub	978	G=0.400	A=0.600
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.553	A=0.447
The Genome Aggregation Database	African	Sub	8704	G=0.220	A=0.780
The Genome Aggregation Database	American	Sub	836	G=0.320	A=0.680
The Genome Aggregation Database	East Asian	Sub	1618	G=0.292	A=0.708
The Genome Aggregation Database	Europe	Sub	18456	G=0.527	A=0.472
The Genome Aggregation Database	Global	Study-wide	29916	G=0.418	A=0.581
The Genome Aggregation Database	Other	Sub	302	G=0.470	A=0.530
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.378	A=0.621
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.566	A=0.434

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

SNP ID	p-value	Traits	Study
rs7005715	4.6E-05	alcohol dependence	24277619

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	1620761	1621223	E067	-28737
chr8	1621328	1621464	E067	-28496
chr8	1683312	1683432	E067	33352
chr8	1683467	1684372	E067	33507
chr8	1684678	1684902	E067	34718
chr8	1693124	1695462	E067	43164
chr8	1643872	1644281	E068	-5679
chr8	1644357	1644416	E068	-5544
chr8	1693124	1695462	E068	43164
chr8	1693124	1695462	E069	43164
chr8	1648707	1648804	E070	-1156
chr8	1650708	1650818	E070	748
chr8	1620761	1621223	E071	-28737
chr8	1621328	1621464	E071	-28496
chr8	1683467	1684372	E071	33507
chr8	1693124	1695462	E071	43164
chr8	1695913	1696039	E071	45953
chr8	1618623	1618681	E072	-31279
chr8	1618682	1618798	E072	-31162
chr8	1643872	1644281	E072	-5679
chr8	1644357	1644416	E072	-5544
chr8	1683312	1683432	E072	33352
chr8	1683467	1684372	E072	33507
chr8	1693124	1695462	E072	43164
chr8	1616161	1616211	E073	-33749
chr8	1620761	1621223	E073	-28737
chr8	1643872	1644281	E073	-5679
chr8	1683467	1684372	E073	33507
chr8	1693124	1695462	E073	43164
chr8	1648707	1648804	E074	-1156
chr8	1683467	1684372	E074	33507
chr8	1685023	1685065	E074	35063
chr8	1692462	1692602	E074	42502
chr8	1692691	1692834	E074	42731
chr8	1693124	1695462	E074	43164
chr8	1618329	1618487	E081	-31473
chr8	1618489	1618566	E081	-31394
chr8	1618623	1618681	E081	-31279
chr8	1618682	1618798	E081	-31162
chr8	1618837	1619017	E081	-30943
chr8	1619312	1619362	E081	-30598
chr8	1619459	1619513	E081	-30447
chr8	1626406	1626459	E081	-23501
chr8	1643872	1644281	E081	-5679
chr8	1644357	1644416	E081	-5544
chr8	1653221	1653312	E081	3261
chr8	1653361	1653449	E081	3401
chr8	1653458	1653596	E081	3498
chr8	1653601	1653655	E081	3641
chr8	1653860	1654061	E081	3900
chr8	1654062	1654229	E081	4102
chr8	1654366	1654417	E081	4406
chr8	1697063	1697169	E081	47103
chr8	1697389	1697486	E081	47429
chr8	1615354	1615418	E082	-34542
chr8	1650708	1650818	E082	748
chr8	1653221	1653312	E082	3261
chr8	1653361	1653449	E082	3401
chr8	1653458	1653596	E082	3498
chr8	1653601	1653655	E082	3641
chr8	1653860	1654061	E082	3900
chr8	1654062	1654229	E082	4102
chr8	1654366	1654417	E082	4406
chr8	1654468	1654699	E082	4508

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region
chr8	1648828	1650367	E067
chr8	1648828	1650367	E068
chr8	1648828	1650367	E069
chr8	1648828	1650367	E070
chr8	1648828	1650367	E071
chr8	1648828	1650367	E072
chr8	1648828	1650367	E073
chr8	1648828	1650367	E074
chr8	1648828	1650367	E082

rs7005715

Genomic Coordinates

Gene: DLGAP2, discs large homolog associated protein 2(plus strand)

Population Frequency

P-Value

eQTL of rs7005715 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7005715 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)