rs3910707

Homo sapiens
A>C
DLGAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0377 (11301/29916,GnomAD)
C=0312 (9097/29118,TOPMED)
C=0381 (1908/5008,1000G)
C=0413 (1591/3854,ALSPAC)
C=0395 (1465/3708,TWINSUK)
chr18:3873447 (GRCh38.p7) (18p11.31)
AD
GWASdb2
1   publication(s)
See rs on genome
104 Enhancers around
74 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.3873447A>C
GRCh37.p13 chr 18NC_000018.9:g.3873447A>C

Gene: DLGAP1, discs large homolog associated protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DLGAP1 transcript variant 3NM_001242761.1:c.N/AIntron Variant
DLGAP1 transcript variant 4NM_001242762.1:c.N/AIntron Variant
DLGAP1 transcript variant 5NM_001242763.1:c.N/AIntron Variant
DLGAP1 transcript variant 6NM_001242764.1:c.N/AIntron Variant
DLGAP1 transcript variant 9NM_001308390.1:c.N/AIntron Variant
DLGAP1 transcript variant 1NM_004746.3:c.N/AIntron Variant
DLGAP1 transcript variant 2NM_001003809.2:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 7NM_001242765.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 8NM_001242766.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X1XM_005258171.2:c.N/AIntron Variant
DLGAP1 transcript variant X3XM_005258172.1:c.N/AIntron Variant
DLGAP1 transcript variant X4XM_005258173.3:c.N/AIntron Variant
DLGAP1 transcript variant X9XM_005258174.4:c.N/AIntron Variant
DLGAP1 transcript variant X5XM_006722367.3:c.N/AIntron Variant
DLGAP1 transcript variant X12XM_011525770.2:c.N/AIntron Variant
DLGAP1 transcript variant X13XM_011525771.2:c.N/AIntron Variant
DLGAP1 transcript variant X6XM_017026080.1:c.N/AIntron Variant
DLGAP1 transcript variant X7XM_017026081.1:c.N/AIntron Variant
DLGAP1 transcript variant X8XM_017026082.1:c.N/AIntron Variant
DLGAP1 transcript variant X10XM_017026083.1:c.N/AIntron Variant
DLGAP1 transcript variant X11XM_017026084.1:c.N/AIntron Variant
DLGAP1 transcript variant X11XM_017026085.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.823C=0.177
1000GenomesAmericanSub694A=0.600C=0.400
1000GenomesEast AsianSub1008A=0.570C=0.430
1000GenomesEuropeSub1006A=0.566C=0.434
1000GenomesGlobalStudy-wide5008A=0.619C=0.381
1000GenomesSouth AsianSub978A=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.587C=0.413
The Genome Aggregation DatabaseAfricanSub8710A=0.808C=0.192
The Genome Aggregation DatabaseAmericanSub832A=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1616A=0.543C=0.457
The Genome Aggregation DatabaseEuropeSub18456A=0.543C=0.456
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.622C=0.377
The Genome Aggregation DatabaseOtherSub302A=0.560C=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.687C=0.312
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.605C=0.395
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
rs39107074.4E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs3910707 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 rs3910707 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 )
chr1838271653827306E067-46141
chr1838273323827448E067-45999
chr1838274813827639E067-45808
chr1838395633839930E067-33517
chr1838673363867515E067-5932
chr1838678483868494E067-4953
chr1838925453892596E06719098
chr1838926283892703E06719181
chr1838927703892841E06719323
chr1839160953916553E06742648
chr1839166183916779E06743171
chr1838327253832860E069-40587
chr1838329073832957E069-40490
chr1838392223839272E069-34175
chr1838273323827448E070-45999
chr1838274813827639E070-45808
chr1838276973827798E070-45649
chr1838298123829900E070-43547
chr1838306183830849E070-42598
chr1838316903831740E070-41707
chr1838321643832291E070-41156
chr1838323623832479E070-40968
chr1838325143832616E070-40831
chr1838327253832860E070-40587
chr1838329073832957E070-40490
chr1838365193837368E070-36079
chr1838392223839272E070-34175
chr1838395633839930E070-33517
chr1838745643874660E0701117
chr1838746963874782E0701249
chr1838755363875643E0702089
chr1838758423875905E0702395
chr1839141903914586E07040743
chr1839147923915209E07041345
chr1839153263915442E07041879
chr1838321643832291E072-41156
chr1838323623832479E072-40968
chr1838678483868494E072-4953
chr1838365193837368E073-36079
chr1838392223839272E073-34175
chr1838395633839930E073-33517
chr1838401633840263E073-33184
chr1838403323840382E073-33065
chr1838403833840465E073-32982
chr1838405193840617E073-32830
chr1838406743840746E073-32701
chr1838408433841226E073-32221
chr1838784573878560E0735010
chr1839003323900701E07326885
chr1839013623901542E07327915
chr1839147923915209E07341345
chr1839166183916779E07343171
chr1838306183830849E081-42598
chr1838316903831740E081-41707
chr1838321643832291E081-41156
chr1838323623832479E081-40968
chr1838325143832616E081-40831
chr1838327253832860E081-40587
chr1838329073832957E081-40490
chr1838345613834633E081-38814
chr1838346723834767E081-38680
chr1838349593835306E081-38141
chr1838354853835654E081-37793
chr1838358863835936E081-37511
chr1838360583836108E081-37339
chr1838361163836201E081-37246
chr1838365193837368E081-36079
chr1838403833840465E081-32982
chr1838621323862538E081-10909
chr1838673363867515E081-5932
chr1838678483868494E081-4953
chr1838755363875643E0812089
chr1838758423875905E0812395
chr1838761523876206E0812705
chr1838993883899512E08125941
chr1839059223906546E08132475
chr1839065873906886E08133140
chr1839160953916553E08142648
chr1839166183916779E08143171
chr1838316903831740E082-41707
chr1838321643832291E082-41156
chr1838329073832957E082-40490
chr1838358863835936E082-37511
chr1838360583836108E082-37339
chr1838361163836201E082-37246
chr1838365193837368E082-36079
chr1838383813838431E082-35016
chr1838384573838553E082-34894
chr1838395633839930E082-33517
chr1838401633840263E082-33184
chr1838403323840382E082-33065
chr1838403833840465E082-32982
chr1838405193840617E082-32830
chr1838989393899275E08225492
chr1838993883899512E08225941
chr1838996093899681E08226162
chr1838996983899755E08226251
chr1839003323900701E08226885
chr1839153263915442E08241879
chr1839155343915869E08242087
chr1839158993915972E08242452
chr1839160953916553E08242648
chr1839166183916779E08243171
chr1839169023916984E08243455







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1838440553844122E067-29325
chr1838446743844724E067-28723
chr1838449263845001E067-28446
chr1838452183845430E067-28017
chr1838454933845597E067-27850
chr1838456813845798E067-27649
chr1838711103871189E067-2258
chr1838713053871370E067-2077
chr1838714453871489E067-1958
chr1838715353871585E067-1862
chr1838717183871762E067-1685
chr1838718653871915E067-1532
chr1838721433872208E067-1239
chr1838726393873021E067-426
chr1838732963873570E0670
chr1838735813873640E067134
chr1838740533874544E067606
chr1838748203874949E0671373
chr1838740533874544E068606
chr1838748203874949E0681373
chr1838452183845430E069-28017
chr1838454933845597E069-27850
chr1838456813845798E069-27649
chr1838726393873021E069-426
chr1838732963873570E0690
chr1838735813873640E069134
chr1838740533874544E069606
chr1838452183845430E071-28017
chr1838454933845597E071-27850
chr1838456813845798E071-27649
chr1838735813873640E071134
chr1838740533874544E071606
chr1838431883843307E072-30140
chr1838440553844122E072-29325
chr1838446743844724E072-28723
chr1838449263845001E072-28446
chr1838452183845430E072-28017
chr1838454933845597E072-27850
chr1838456813845798E072-27649
chr1838711103871189E072-2258
chr1838713053871370E072-2077
chr1838714453871489E072-1958
chr1838715353871585E072-1862
chr1838717183871762E072-1685
chr1838718653871915E072-1532
chr1838721433872208E072-1239
chr1838726393873021E072-426
chr1838732963873570E0720
chr1838735813873640E072134
chr1838740533874544E072606
chr1838748203874949E0721373
chr1838431883843307E073-30140
chr1838440553844122E073-29325
chr1838446743844724E073-28723
chr1838449263845001E073-28446
chr1838452183845430E073-28017
chr1838711103871189E073-2258
chr1838713053871370E073-2077
chr1838726393873021E073-426
chr1838732963873570E0730
chr1838735813873640E073134
chr1838740533874544E073606
chr1838748203874949E0731373
chr1838740533874544E074606
chr1838740533874544E081606
chr1838748203874949E0811373
chr1838446743844724E082-28723
chr1838449263845001E082-28446
chr1838452183845430E082-28017
chr1838454933845597E082-27850
chr1838726393873021E082-426
chr1838732963873570E0820
chr1838735813873640E082134
chr1838740533874544E082606