rs17051404

Homo sapiens
A>C / A>G
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0025 (765/29992,GnomAD)
C=0036 (1068/29118,TOPMED)
C=0034 (171/5008,1000G)
C=0000 (1/3854,ALSPAC)
C=0000 (1/3708,TWINSUK)
chr3:50714419 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50714419A>C
GRCh38.p7 chr 3NC_000003.12:g.50714419A>G
GRCh37.p13 chr 3NC_000003.11:g.50751850A>C
GRCh37.p13 chr 3NC_000003.11:g.50751850A>G
DOCK3 RefSeqGeneNG_028012.1:g.44179A>C
DOCK3 RefSeqGeneNG_028012.1:g.44179A>G

Gene: DOCK3, dedicator of cytokinesis 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DOCK3 transcriptNM_004947.4:c.N/AIntron Variant
DOCK3 transcript variant X1XM_005264914.3:c.N/AIntron Variant
DOCK3 transcript variant X2XM_005264915.3:c.N/AIntron Variant
DOCK3 transcript variant X3XM_005264916.3:c.N/AIntron Variant
DOCK3 transcript variant X4XM_005264917.3:c.N/AIntron Variant
DOCK3 transcript variant X8XM_005264918.3:c.N/AIntron Variant
DOCK3 transcript variant X5XM_006713008.3:c.N/AIntron Variant
DOCK3 transcript variant X6XM_006713009.3:c.N/AIntron Variant
DOCK3 transcript variant X10XM_006713010.3:c.N/AIntron Variant
DOCK3 transcript variant X7XM_017005825.1:c.N/AIntron Variant
DOCK3 transcript variant X9XM_017005826.1:c.N/AIntron Variant
DOCK3 transcript variant X12XM_011533441.2:c.N/AGenic Upstream Transcript Variant
DOCK3 transcript variant X13XM_011533443.2:c.N/AGenic Upstream Transcript Variant
DOCK3 transcript variant X14XM_011533444.2:c.N/AGenic Upstream Transcript Variant
DOCK3 transcript variant X15XM_011533445.2:c.N/AGenic Upstream Transcript Variant
DOCK3 transcript variant X11XM_017005827.1:c.N/AGenic Upstream Transcript Variant
DOCK3 transcript variant X16XM_017005828.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.876C=0.124
1000GenomesAmericanSub694A=0.990C=0.010
1000GenomesEast AsianSub1008A=1.000C=0.000
1000GenomesEuropeSub1006A=0.999C=0.001
1000GenomesGlobalStudy-wide5008A=0.966C=0.034
1000GenomesSouth AsianSub978A=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8728A=0.914C=0.086
The Genome Aggregation DatabaseAmericanSub838A=0.990C=0.01,
The Genome Aggregation DatabaseEast AsianSub1618A=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18506A=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29992A=0.974C=0.025
The Genome Aggregation DatabaseOtherSub302A=1.000C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.963C=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=1.000C=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
rs170514040.000744alcohol dependence20201924

eQTL of rs17051404 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 rs17051404 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 )
chr32587221425872854E06745252
chr32587306125873387E06746099
chr32582968025829825E0682718
chr32582985825829908E0682896
chr32583252525832616E0685563
chr32583270625832753E0685744
chr32586184725862572E06834885
chr32587221425872854E06845252
chr32583252525832616E0695563
chr32583270625832753E0695744
chr32586184725862572E06934885
chr32587221425872854E06945252
chr32582311425823490E070-3472
chr32583403525834085E0707073
chr32585819425858250E07031232
chr32585879225858889E07031830
chr32586184725862572E07034885
chr32586293625863205E07035974
chr32587206425872121E07045102
chr32587221425872854E07045252
chr32587306125873387E07046099
chr32582311425823490E071-3472
chr32583252525832616E0715563
chr32583270625832753E0715744
chr32583281425832885E0715852
chr32583309725833185E0716135
chr32583335025833432E0716388
chr32586184725862572E07134885
chr32587221425872854E07145252
chr32587306125873387E07146099
chr32586184725862572E07234885
chr32582311425823490E073-3472
chr32583252525832616E0735563
chr32583270625832753E0735744
chr32583281425832885E0735852
chr32582311425823490E074-3472
chr32582639225826501E074-461
chr32583252525832616E0745563
chr32583270625832753E0745744
chr32583281425832885E0745852
chr32586184725862572E07434885
chr32582311425823490E081-3472
chr32584317025843678E08116208
chr32584376625843849E08116804
chr32584389425843948E08116932
chr32587306125873387E08146099
chr32582311425823490E082-3472
chr32587206425872121E08245102
chr32587221425872854E08245252
chr32587306125873387E08246099










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr32582423025825920E067-1042
chr32583111125832195E0674149
chr32582423025825920E068-1042
chr32583111125832195E0684149
chr32582423025825920E069-1042
chr32583111125832195E0694149
chr32582423025825920E070-1042
chr32583111125832195E0704149
chr32582423025825920E071-1042
chr32583111125832195E0714149
chr32582423025825920E072-1042
chr32583111125832195E0724149
chr32582423025825920E073-1042
chr32583111125832195E0734149
chr32582423025825920E074-1042
chr32583111125832195E0744149
chr32582423025825920E081-1042
chr32583111125832195E0814149
chr32582423025825920E082-1042
chr32583111125832195E0824149