rs2284642

Homo sapiens
G>T
DOPEY2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0155 (4645/29894,GnomAD)
T=0162 (4733/29118,TOPMED)
T=0196 (983/5008,1000G)
T=0138 (533/3854,ALSPAC)
T=0147 (546/3708,TWINSUK)
chr21:36279015 (GRCh38.p7) (21q22.12)
AD
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
31 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.36279015G>T
GRCh37.p13 chr 21NC_000021.8:g.37651313G>T

Gene: DOPEY2, dopey family member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DOPEY2 transcript variant 1NM_001320714.1:c.N/AIntron Variant
DOPEY2 transcript variant 2NM_005128.3:c.N/AIntron Variant
DOPEY2 transcript variant X1XM_017028509.1:c.N/AIntron Variant
DOPEY2 transcript variant X3XR_001754923.1:n.N/AIntron Variant
DOPEY2 transcript variant X2XR_937581.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.858T=0.142
1000GenomesAmericanSub694G=0.870T=0.130
1000GenomesEast AsianSub1008G=0.646T=0.354
1000GenomesEuropeSub1006G=0.837T=0.163
1000GenomesGlobalStudy-wide5008G=0.804T=0.196
1000GenomesSouth AsianSub978G=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.862T=0.138
The Genome Aggregation DatabaseAfricanSub8712G=0.851T=0.149
The Genome Aggregation DatabaseAmericanSub838G=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1600G=0.621T=0.379
The Genome Aggregation DatabaseEuropeSub18442G=0.859T=0.140
The Genome Aggregation DatabaseGlobalStudy-wide29894G=0.844T=0.155
The Genome Aggregation DatabaseOtherSub302G=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.837T=0.162
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.853T=0.147
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
rs22846420.00067Alcohol dependence (early age of onset)20201924
rs22846420.00081alcohol dependence20201924

eQTL of rs2284642 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 rs2284642 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 )
chr213769524637695887E06743933
chr213769986237700157E06748549
chr213769986237700157E06848549
chr213763209537632175E069-19138
chr213769761437698069E06946301
chr213769807037698177E06946757
chr213769986237700157E06948549
chr213769477137694841E07043458
chr213769494637695052E07043633
chr213769524637695887E07043933
chr213767192137671995E07120608
chr213769477137694841E07143458
chr213769494637695052E07143633
chr213769524637695887E07143933
chr213769590437696195E07144591
chr213769761437698069E07146301
chr213769807037698177E07146757
chr213769986237700157E07148549
chr213769524637695887E07243933
chr213769590437696195E07244591
chr213769986237700157E07248549
chr213769477137694841E07343458
chr213769986237700157E07448549
chr213770038837700438E07449075
chr213767126037671796E08119947
chr213767192137671995E08120608
chr213769477137694841E08143458
chr213769494637695052E08143633
chr213767126037671796E08219947
chr213769494637695052E08243633
chr213769524637695887E08243933










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr213763247137632535E067-18778
chr213763260337633341E067-17972
chr213769193837693819E06740625
chr213763247137632535E068-18778
chr213763260337633341E068-17972
chr213769175537691843E06840442
chr213769193837693819E06840625
chr213763247137632535E069-18778
chr213763260337633341E069-17972
chr213769175537691843E06940442
chr213769193837693819E06940625
chr213763260337633341E070-17972
chr213769175537691843E07040442
chr213769193837693819E07040625
chr213763247137632535E071-18778
chr213763260337633341E071-17972
chr213769193837693819E07140625
chr213763247137632535E072-18778
chr213763260337633341E072-17972
chr213769193837693819E07240625
chr213763247137632535E073-18778
chr213763260337633341E073-17972
chr213769175537691843E07340442
chr213769193837693819E07340625
chr213763247137632535E074-18778
chr213763260337633341E074-17972
chr213769193837693819E07440625
chr213769193837693819E08140625
chr213763260337633341E082-17972
chr213769175537691843E08240442
chr213769193837693819E08240625