rs8026678

Homo sapiens
A>G
VPS33B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0452 (13504/29862,GnomAD)
A==0400 (11655/29118,TOPMED)
A==0269 (1346/5008,1000G)
G=0380 (1465/3854,ALSPAC)
G=0368 (1364/3708,TWINSUK)
chr15:91018775 (GRCh38.p7) (15q26.1)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.91018775A>G
GRCh37.p13 chr 15NC_000015.9:g.91562005A>G
VPS33B RefSeqGene LRG_884

Gene: VPS33B, VPS33B, late endosome and lysosome associated(minus strand)

Molecule type Change Amino acid[Codon] SO Term
VPS33B transcript variant 2NM_001289148.1:c.N/AIntron Variant
VPS33B transcript variant 3NM_001289149.1:c.N/AIntron Variant
VPS33B transcript variant 1NM_018668.4:c.N/AIntron Variant
VPS33B transcript variant X2XM_005254887.1:c.N/AIntron Variant
VPS33B transcript variant X1XM_011521448.1:c.N/AIntron Variant
VPS33B transcript variant X4XM_017022075.1:c.N/AIntron Variant
VPS33B transcript variant X5XM_017022076.1:c.N/AIntron Variant
VPS33B transcript variant X3XM_011521449.2:c.N/AGenic Upstream Transcript Variant
VPS33B transcript variant X6XR_001751213.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.161G=0.839
1000GenomesAmericanSub694A=0.340G=0.660
1000GenomesEast AsianSub1008A=0.004G=0.996
1000GenomesEuropeSub1006A=0.620G=0.380
1000GenomesGlobalStudy-wide5008A=0.269G=0.731
1000GenomesSouth AsianSub978A=0.270G=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.620G=0.380
The Genome Aggregation DatabaseAfricanSub8696A=0.214G=0.786
The Genome Aggregation DatabaseAmericanSub836A=0.310G=0.690
The Genome Aggregation DatabaseEast AsianSub1618A=0.002G=0.998
The Genome Aggregation DatabaseEuropeSub18414A=0.608G=0.391
The Genome Aggregation DatabaseGlobalStudy-wide29862A=0.452G=0.547
The Genome Aggregation DatabaseOtherSub298A=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.400G=0.599
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.632G=0.368
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
rs80266780.00062alcohol dependence20201924

eQTL of rs8026678 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:91562005MAN2A2ENSG00000196547.10A>G1.7425e-18116557Cerebellum
Chr15:91562005UNC45AENSG00000140553.12A>G2.7228e-488595Cerebellum
Chr15:91562005MAN2A2ENSG00000196547.10A>G1.0968e-4116557Cerebellar_Hemisphere
Chr15:91562005AC068831.10ENSG00000214432.5A>G1.1312e-3-3844Cerebellar_Hemisphere

meQTL of rs8026678 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 )
chr159156124391561315E067-690
chr159156148791561541E067-464
chr159156437691564486E0682371
chr159159277891593536E06830773
chr159156091491561212E069-793
chr159156124391561315E069-690
chr159153152291532011E070-29994
chr159153201491532165E070-29840
chr159153489291535160E070-26845
chr159153518591535307E070-26698
chr159153532191535405E070-26600
chr159153550691535616E070-26389
chr159156148791561541E070-464
chr159156156691561646E070-359
chr159156169191561763E070-242
chr159156373791563860E0701732
chr159156427091564320E0702265
chr159156437691564486E0702371
chr159156091491561212E071-793
chr159156124391561315E071-690
chr159156148791561541E071-464
chr159156156691561646E071-359
chr159156169191561763E071-242
chr159156124391561315E072-690
chr159156148791561541E072-464
chr159156156691561646E072-359
chr159156169191561763E072-242
chr159156183091561884E072-121
chr159156189591561935E072-70
chr159156373791563860E0721732
chr159156427091564320E0722265
chr159156437691564486E0722371
chr159159890891599032E07236903
chr159160717191607211E07245166
chr159156373791563860E0741732
chr159156427091564320E0742265
chr159156437691564486E0742371
chr159156427091564320E0812265
chr159156437691564486E0812371
chr159156275391562809E082748
chr159156427091564320E0822265









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr159153634891539047E067-22958
chr159156479591566467E0672790
chr159159909591599563E06737090
chr159159957091599655E06737565
chr159153634891539047E068-22958
chr159156479591566467E0682790
chr159159909591599563E06837090
chr159159957091599655E06837565
chr159153634891539047E069-22958
chr159156479591566467E0692790
chr159159909591599563E06937090
chr159159957091599655E06937565
chr159153587391536278E070-25727
chr159153634891539047E070-22958
chr159153907291539143E070-22862
chr159156479591566467E0702790
chr159153634891539047E071-22958
chr159156479591566467E0712790
chr159159909591599563E07137090
chr159159957091599655E07137565
chr159153634891539047E072-22958
chr159156479591566467E0722790
chr159159909591599563E07237090
chr159159957091599655E07237565
chr159153634891539047E073-22958
chr159156479591566467E0732790
chr159159909591599563E07337090
chr159159957091599655E07337565
chr159153634891539047E074-22958
chr159156479591566467E0742790
chr159159909591599563E07437090
chr159153634891539047E081-22958
chr159156479591566467E0812790
chr159153587391536278E082-25727
chr159153634891539047E082-22958
chr159156479591566467E0822790