rs2385134

Homo sapiens
G>A
ORC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0053 (1593/29950,GnomAD)
A=0082 (2403/29118,TOPMED)
A=0058 (288/5008,1000G)
A=0000 (1/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr7:104169681 (GRCh38.p7) (7q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.104169681G>A
GRCh37.p13 chr 7NC_000007.13:g.103810129G>A
ORC5 RefSeqGeneNG_029899.1:g.43367C>T

Gene: ORC5, origin recognition complex, subunit 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ORC5 transcript variant 1NM_002553.3:c.N/AIntron Variant
ORC5 transcript variant 2NM_181747.3:c.N/AIntron Variant
ORC5 transcript variant X1XM_011516273.2:c.N/AGenic Downstream Transcript Variant
ORC5 transcript variant X2XR_001744792.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.791A=0.209
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.942A=0.058
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8704G=0.819A=0.181
The Genome Aggregation DatabaseAmericanSub836G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1614G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18494G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.946A=0.053
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.917A=0.082
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
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
rs23851340.000791alcohol dependence20201924

eQTL of rs2385134 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 rs2385134 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 )
chr7103815828103816012E0695699
chr7103816168103816279E0696039
chr7103816304103817170E0696175
chr7103817466103817537E0697337
chr7103765744103765794E070-44335
chr7103766165103766237E070-43892
chr7103766687103767299E070-42830
chr7103766687103767299E071-42830
chr7103816304103817170E0716175
chr7103817466103817537E0727337
chr7103765744103765794E082-44335





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7103847408103849279E06737279
chr7103847408103849279E06837279
chr7103847408103849279E06937279
chr7103847408103849279E07037279
chr7103847408103849279E07137279
chr7103847408103849279E07237279
chr7103847408103849279E07337279
chr7103847408103849279E07437279
chr7103847408103849279E08137279
chr7103847408103849279E08237279