rs17712228

Homo sapiens
G>A
VPRBP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0088 (10404/117546,ExAC)
A=0069 (2079/29956,GnomAD)
A=0083 (2423/29118,TOPMED)
G==0041 (489/11896,GO-ESP)
A=0148 (740/5008,1000G)
A=0019 (75/3854,ALSPAC)
A=0014 (53/3708,TWINSUK)
chr3:51440166 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.51440166G>A
GRCh37.p13 chr 3 fix patch HG186_PATCHNW_003315910.1:g.61489G>A
GRCh37.p13 chr 3NC_000003.11:g.51474182G>A

Gene: VPRBP, Vpr (HIV-1) binding protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DCAF1 transcript variant 2NM_001171904.1:c.N/AIntron Variant
DCAF1 transcript variant 1NM_014703.2:c.N/AIntron Variant
VPRBP transcript variant X10XM_005276753.4:c.N/AIntron Variant
VPRBP transcript variant X9XM_005276755.4:c.N/AIntron Variant
VPRBP transcript variant X3XM_011534273.2:c.N/AIntron Variant
VPRBP transcript variant X2XM_011534274.2:c.N/AIntron Variant
VPRBP transcript variant X7XM_011534275.2:c.N/AIntron Variant
VPRBP transcript variant X6XM_011534276.2:c.N/AIntron Variant
VPRBP transcript variant X1XM_011534277.2:c.N/AIntron Variant
VPRBP transcript variant X4XM_017007546.1:c.N/AIntron Variant
VPRBP transcript variant X5XM_017007547.1:c.N/AIntron Variant
VPRBP transcript variant X8XM_017007548.1:c.N/AIntron Variant
VPRBP transcript variant X11XM_017007549.1:c.N/AIntron Variant
VPRBP transcript variant X12XM_017007550.1:c.N/AIntron Variant
VPRBP transcript variant X16XM_017007551.1:c.N/AIntron Variant
VPRBP transcript variant X13XR_001740385.1:n.N/AIntron Variant
VPRBP transcript variant X14XR_001740386.1:n.N/AIntron Variant
VPRBP transcript variant X15XR_001740387.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.885A=0.115
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.647A=0.353
1000GenomesEuropeSub1006G=0.980A=0.020
1000GenomesGlobalStudy-wide5008G=0.852A=0.148
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.981A=0.019
The Exome Aggregation ConsortiumAmericanSub20804G=0.738A=0.261
The Exome Aggregation ConsortiumAsianSub24396G=0.858A=0.141
The Exome Aggregation ConsortiumEuropeSub71478G=0.979A=0.020
The Exome Aggregation ConsortiumGlobalStudy-wide117546G=0.911A=0.088
The Exome Aggregation ConsortiumOtherSub868G=0.940A=0.060
The Genome Aggregation DatabaseAfricanSub8728G=0.908A=0.092
The Genome Aggregation DatabaseAmericanSub838G=0.640A=0.360
The Genome Aggregation DatabaseEast AsianSub1604G=0.658A=0.342
The Genome Aggregation DatabaseEuropeSub18484G=0.977A=0.023
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.930A=0.069
The Genome Aggregation DatabaseOtherSub302G=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.916A=0.083
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.986A=0.014
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
rs177122280.000137alcohol dependence20201924

eQTL of rs17712228 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 rs17712228 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 )
chr3104810105451E06743321
chr3104810105451E06943321
chr3105525105633E06944036
chr3104810105451E07143321
chr3105525105633E07144036
chr3105525105633E07244036
chr38431584369E08122826
chr38610586168E08124616
chr3104810105451E08143321
chr3105525105633E08144036
chr38431584369E08222826
chr3104810105451E08243321
chr3105525105633E08244036