rs7005715

Homo sapiens
G>A
DLGAP2 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr8:1701794 (GRCh38.p7) (8p23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.1701794G>A
GRCh37.p13 chr 8NC_000008.10:g.1649960G>A
DLGAP2 RefSeqGeneNG_009409.1:g.205392G>A
GRCh38.p7 chr 8 alt locus HSCHR8_5_CTG1NT_187654.1:g.311061G>A
GRCh38.p7 chr 8 alt locus HSCHR8_7_CTG1NT_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 1NM_004745.4:c.N/A3 Prime UTR Variant
DLGAP2 transcript variant 2NM_001277161.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.188A=0.812
1000GenomesAmericanSub694G=0.340A=0.660
1000GenomesEast AsianSub1008G=0.324A=0.676
1000GenomesEuropeSub1006G=0.568A=0.432
1000GenomesGlobalStudy-wide5008G=0.355A=0.645
1000GenomesSouth AsianSub978G=0.400A=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.553A=0.447
The Genome Aggregation DatabaseAfricanSub8704G=0.220A=0.780
The Genome Aggregation DatabaseAmericanSub836G=0.320A=0.680
The Genome Aggregation DatabaseEast AsianSub1618G=0.292A=0.708
The Genome Aggregation DatabaseEuropeSub18456G=0.527A=0.472
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.418A=0.581
The Genome Aggregation DatabaseOtherSub302G=0.470A=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.378A=0.621
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.566A=0.434
PMID Title Author Journal
24277619ALDH2 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 EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs70057154.6E-05alcohol dependence24277619

eQTL of rs7005715 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 rs7005715 in Fetal Brain

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 )
chr816207611621223E067-28737
chr816213281621464E067-28496
chr816833121683432E06733352
chr816834671684372E06733507
chr816846781684902E06734718
chr816931241695462E06743164
chr816438721644281E068-5679
chr816443571644416E068-5544
chr816931241695462E06843164
chr816931241695462E06943164
chr816487071648804E070-1156
chr816507081650818E070748
chr816207611621223E071-28737
chr816213281621464E071-28496
chr816834671684372E07133507
chr816931241695462E07143164
chr816959131696039E07145953
chr816186231618681E072-31279
chr816186821618798E072-31162
chr816438721644281E072-5679
chr816443571644416E072-5544
chr816833121683432E07233352
chr816834671684372E07233507
chr816931241695462E07243164
chr816161611616211E073-33749
chr816207611621223E073-28737
chr816438721644281E073-5679
chr816834671684372E07333507
chr816931241695462E07343164
chr816487071648804E074-1156
chr816834671684372E07433507
chr816850231685065E07435063
chr816924621692602E07442502
chr816926911692834E07442731
chr816931241695462E07443164
chr816183291618487E081-31473
chr816184891618566E081-31394
chr816186231618681E081-31279
chr816186821618798E081-31162
chr816188371619017E081-30943
chr816193121619362E081-30598
chr816194591619513E081-30447
chr816264061626459E081-23501
chr816438721644281E081-5679
chr816443571644416E081-5544
chr816532211653312E0813261
chr816533611653449E0813401
chr816534581653596E0813498
chr816536011653655E0813641
chr816538601654061E0813900
chr816540621654229E0814102
chr816543661654417E0814406
chr816970631697169E08147103
chr816973891697486E08147429
chr816153541615418E082-34542
chr816507081650818E082748
chr816532211653312E0823261
chr816533611653449E0823401
chr816534581653596E0823498
chr816536011653655E0823641
chr816538601654061E0823900
chr816540621654229E0824102
chr816543661654417E0824406
chr816544681654699E0824508










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr816488281650367E0670
chr816488281650367E0680
chr816488281650367E0690
chr816488281650367E0700
chr816488281650367E0710
chr816488281650367E0720
chr816488281650367E0730
chr816488281650367E0740
chr816488281650367E0820