rs8111589

Homo sapiens
C>T
OPA3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0479 (14307/29846,GnomAD)
C==0492 (14345/29118,TOPMED)
T=0465 (2331/5008,1000G)
C==0437 (1683/3854,ALSPAC)
C==0450 (1669/3708,TWINSUK)
chr19:45531300 (GRCh38.p7) (19q13.32)
AD
GWASCatalog | GWASdb2
3   publication(s)
See rs on genome
55 Enhancers around
42 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.45531300C>T
GRCh37.p13 chr 19NC_000019.9:g.46034558C>T
OPA3 RefSeqGeneNG_013332.1:g.58565G>A

Gene: OPA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OPA3 transcript variant 1NM_001017989.2:c.N/AIntron Variant
OPA3 transcript variant 2NM_025136.3:c.N/AGenic Downstream Transcript Variant
OPA3 transcript variant X1XM_006723403.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.567T=0.433
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.583T=0.417
1000GenomesEuropeSub1006C=0.451T=0.549
1000GenomesGlobalStudy-wide5008C=0.535T=0.465
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.437T=0.563
The Genome Aggregation DatabaseAfricanSub8688C=0.532T=0.468
The Genome Aggregation DatabaseAmericanSub834C=0.540T=0.460
The Genome Aggregation DatabaseEast AsianSub1608C=0.596T=0.404
The Genome Aggregation DatabaseEuropeSub18416C=0.442T=0.557
The Genome Aggregation DatabaseGlobalStudy-wide29846C=0.479T=0.520
The Genome Aggregation DatabaseOtherSub300C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.492T=0.507
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.450T=0.550
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
22064162Genome-wide association study of comorbid depressive syndrome and alcohol dependence.Edwards ACPsychiatr Genet
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs81115894.00E-06alcohol dependence22064162
rs81115890.00000827alcohol dependence23691058
rs81115890.00015alcohol dependence20201924

eQTL of rs8111589 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 rs8111589 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 )
chr194604708846047605E06712530
chr194605771846057772E06723160
chr194600104446001090E068-33468
chr194602916946029293E068-5265
chr194602930546029777E068-4781
chr194603306846033296E068-1262
chr194604708846047605E06812530
chr194600104446001090E069-33468
chr194600112446001208E069-33350
chr194602916946029293E069-5265
chr194602930546029777E069-4781
chr194604708846047605E06912530
chr194599710845997152E070-37406
chr194599771145998011E070-36547
chr194599803145998103E070-36455
chr194600104446001090E070-33468
chr194600112446001208E070-33350
chr194600104446001090E071-33468
chr194600112446001208E071-33350
chr194600426946005369E071-29189
chr194601677446016830E071-17728
chr194601710246017222E071-17336
chr194601725346017651E071-16907
chr194601769546019000E071-15558
chr194601900946019743E071-14815
chr194604708846047605E07112530
chr194605128746051857E07116729
chr194606158946062154E07127031
chr194602757746027712E072-6846
chr194602775346027826E072-6732
chr194602784646027956E072-6602
chr194604708846047605E07212530
chr194605661446056683E07222056
chr194600104446001090E073-33468
chr194600112446001208E073-33350
chr194601651346016722E073-17836
chr194601677446016830E073-17728
chr194601710246017222E073-17336
chr194601725346017651E073-16907
chr194605128746051857E07316729
chr194607305546073687E07338497
chr194600104446001090E074-33468
chr194600112446001208E074-33350
chr194602916946029293E074-5265
chr194602930546029777E074-4781
chr194604708846047605E07412530
chr194599710845997152E081-37406
chr194599771145998011E081-36547
chr194599803145998103E081-36455
chr194600104446001090E081-33468
chr194600112446001208E081-33350
chr194603306846033296E081-1262
chr194599710845997152E082-37406
chr194599771145998011E082-36547
chr194599803145998103E082-36455










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194598836845989715E067-44843
chr194599573345997032E067-37526
chr194599915646000937E067-33621
chr194600920046013201E067-21357
chr194605714846057205E06722590
chr194598836845989715E068-44843
chr194599573345997032E068-37526
chr194599915646000937E068-33621
chr194600120946003111E068-31447
chr194600920046013201E068-21357
chr194598836845989715E069-44843
chr194599915646000937E069-33621
chr194600120946003111E069-31447
chr194600920046013201E069-21357
chr194598836845989715E070-44843
chr194599915646000937E070-33621
chr194600920046013201E070-21357
chr194598836845989715E071-44843
chr194599915646000937E071-33621
chr194600920046013201E071-21357
chr194599573345997032E072-37526
chr194599915646000937E072-33621
chr194600120946003111E072-31447
chr194600920046013201E072-21357
chr194605675246057105E07222194
chr194605714846057205E07222590
chr194598836845989715E073-44843
chr194599573345997032E073-37526
chr194599915646000937E073-33621
chr194600120946003111E073-31447
chr194600920046013201E073-21357
chr194605675246057105E07322194
chr194605714846057205E07322590
chr194598836845989715E074-44843
chr194599573345997032E074-37526
chr194599915646000937E074-33621
chr194600920046013201E074-21357
chr194599915646000937E081-33621
chr194599915646000937E082-33621
chr194600920046013201E082-21357
chr194605675246057105E08222194
chr194605714846057205E08222590