rs1940094

Homo sapiens
C>T
DLG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0336 (10034/29790,GnomAD)
T=0409 (2047/5008,1000G)
T=0327 (1261/3854,ALSPAC)
T=0335 (1244/3708,TWINSUK)
chr11:84698434 (GRCh38.p7) (11q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.84698434C>T
GRCh37.p13 chr 11NC_000011.9:g.84409477C>T
DLG2 RefSeqGeneNG_021375.1:g.933838G>A

Gene: DLG2, discs large homolog 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DLG2 transcript variant 1NM_001142699.1:c.N/AIntron Variant
DLG2 transcript variant 6NM_001300983.1:c.N/AIntron Variant
DLG2 transcript variant 2NM_001364.3:c.N/AIntron Variant
DLG2 transcript variant 3NM_001142700.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant 4NM_001142702.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant 5NM_001206769.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X4XM_011544778.2:c.N/AIntron Variant
DLG2 transcript variant X6XM_011544780.2:c.N/AIntron Variant
DLG2 transcript variant X15XM_011544782.2:c.N/AIntron Variant
DLG2 transcript variant X1XM_017017254.1:c.N/AIntron Variant
DLG2 transcript variant X2XM_017017255.1:c.N/AIntron Variant
DLG2 transcript variant X3XM_017017256.1:c.N/AIntron Variant
DLG2 transcript variant X5XM_017017257.1:c.N/AIntron Variant
DLG2 transcript variant X7XM_017017258.1:c.N/AIntron Variant
DLG2 transcript variant X8XM_017017259.1:c.N/AIntron Variant
DLG2 transcript variant X9XM_017017260.1:c.N/AIntron Variant
DLG2 transcript variant X10XM_017017261.1:c.N/AIntron Variant
DLG2 transcript variant X12XM_017017263.1:c.N/AIntron Variant
DLG2 transcript variant X13XM_017017264.1:c.N/AIntron Variant
DLG2 transcript variant X14XM_017017265.1:c.N/AIntron Variant
DLG2 transcript variant X17XM_017017267.1:c.N/AIntron Variant
DLG2 transcript variant X18XM_017017268.1:c.N/AIntron Variant
DLG2 transcript variant X19XM_017017269.1:c.N/AIntron Variant
DLG2 transcript variant X20XM_017017270.1:c.N/AIntron Variant
DLG2 transcript variant X21XM_017017271.1:c.N/AIntron Variant
DLG2 transcript variant X22XM_017017272.1:c.N/AIntron Variant
DLG2 transcript variant X23XM_017017274.1:c.N/AIntron Variant
DLG2 transcript variant X25XM_017017276.1:c.N/AIntron Variant
DLG2 transcript variant X29XM_017017279.1:c.N/AIntron Variant
DLG2 transcript variant X31XM_017017280.1:c.N/AIntron Variant
DLG2 transcript variant X32XM_017017281.1:c.N/AIntron Variant
DLG2 transcript variant X35XM_017017285.1:c.N/AIntron Variant
DLG2 transcript variant X28XM_005273810.4:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X32XM_005273811.4:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X36XM_011544788.2:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X11XM_017017262.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X16XM_017017266.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X23XM_017017273.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X24XM_017017275.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X26XM_017017277.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X27XM_017017278.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X34XM_017017282.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X33XM_017017283.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X34XM_017017284.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X39XM_017017286.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X38XM_017017287.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X39XM_017017288.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X40XM_017017289.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X41XM_017017290.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X42XM_017017291.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X43XM_017017292.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.684T=0.316
1000GenomesAmericanSub694C=0.690T=0.310
1000GenomesEast AsianSub1008C=0.374T=0.626
1000GenomesEuropeSub1006C=0.692T=0.308
1000GenomesGlobalStudy-wide5008C=0.591T=0.409
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.673T=0.327
The Genome Aggregation DatabaseAfricanSub8700C=0.689T=0.311
The Genome Aggregation DatabaseAmericanSub834C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1552C=0.357T=0.643
The Genome Aggregation DatabaseEuropeSub18402C=0.671T=0.328
The Genome Aggregation DatabaseGlobalStudy-wide29790C=0.663T=0.336
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.665T=0.335
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19400940.00077alcohol dependence20201924

eQTL of rs1940094 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 rs1940094 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 )
chr118443292784433183E06723450
chr118438640284386456E068-23021
chr118438654484386673E068-22804
chr118443255284432867E06923075
chr118436657484366624E070-42853
chr118436662784366724E070-42753
chr118436686784367254E070-42223
chr118443292784433183E07023450
chr118443327584433338E07023798
chr118443347384433523E07023996
chr118443373284433931E07024255
chr118443394484433994E07024467
chr118443255284432867E07123075
chr118443292784433183E07123450
chr118438654484386673E072-22804
chr118438689884387015E072-22462
chr118435955484359801E081-49676
chr118435982084359954E081-49523
chr118436011184360265E081-49212
chr118436074484360944E081-48533
chr118436595184366001E081-43476
chr118438330184383377E081-26100
chr118443255284432867E08123075
chr118443292784433183E08123450
chr118443255284432867E08223075








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr118443078984430889E06721312
chr118443091984432537E06721442
chr118443008484430313E06820607
chr118443035884430408E06820881
chr118443043484430488E06820957
chr118443052584430619E06821048
chr118443070284430775E06821225
chr118443078984430889E06821312
chr118443091984432537E06821442
chr118442975484429844E06920277
chr118443008484430313E06920607
chr118443035884430408E06920881
chr118443043484430488E06920957
chr118443052584430619E06921048
chr118443070284430775E06921225
chr118443078984430889E06921312
chr118443091984432537E06921442
chr118443078984430889E07021312
chr118443091984432537E07021442
chr118442975484429844E07120277
chr118443008484430313E07120607
chr118443035884430408E07120881
chr118443043484430488E07120957
chr118443052584430619E07121048
chr118443070284430775E07121225
chr118443078984430889E07121312
chr118443091984432537E07121442
chr118443035884430408E07220881
chr118443043484430488E07220957
chr118443052584430619E07221048
chr118443070284430775E07221225
chr118443078984430889E07221312
chr118443091984432537E07221442
chr118443008484430313E07320607
chr118443035884430408E07320881
chr118443043484430488E07320957
chr118443052584430619E07321048
chr118443070284430775E07321225
chr118443078984430889E07321312
chr118443091984432537E07321442
chr118443091984432537E07421442
chr118443091984432537E08121442
chr118443035884430408E08220881
chr118443043484430488E08220957
chr118443052584430619E08221048
chr118443070284430775E08221225
chr118443078984430889E08221312
chr118443091984432537E08221442