rs17051755

Homo sapiens
T>C
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0034 (1037/29990,GnomAD)
C=0050 (1472/29118,TOPMED)
C=0044 (222/5008,1000G)
C=0001 (3/3854,ALSPAC)
C=0001 (2/3708,TWINSUK)
chr3:51349616 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.51349616T>C
GRCh37.p13 chr 3NC_000003.11:g.51387047T>C
DOCK3 RefSeqGeneNG_028012.1:g.679376T>C

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 X12XM_011533441.2:c.N/AIntron Variant
DOCK3 transcript variant X13XM_011533443.2:c.N/AIntron Variant
DOCK3 transcript variant X14XM_011533444.2:c.N/AIntron Variant
DOCK3 transcript variant X15XM_011533445.2: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 X11XM_017005827.1:c.N/AIntron Variant
DOCK3 transcript variant X16XM_017005828.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.842C=0.158
1000GenomesAmericanSub694T=0.980C=0.020
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.999C=0.001
1000GenomesGlobalStudy-wide5008T=0.956C=0.044
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.999C=0.001
The Genome Aggregation DatabaseAfricanSub8724T=0.885C=0.115
The Genome Aggregation DatabaseAmericanSub838T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1620T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18506T=0.998C=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29990T=0.965C=0.034
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.949C=0.050
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.999C=0.001
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
rs170517550.000813alcohol dependence20201924

eQTL of rs17051755 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 rs17051755 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 )
chr35137749751377681E067-9366
chr35137768751378375E067-8672
chr35137851451378628E067-8419
chr35143058851430642E06743541
chr35143089251431029E06743845
chr35143127751431319E06744230
chr35143137751431523E06744330
chr35143168251431749E06744635
chr35143214651432363E06745099
chr35143247251432525E06745425
chr35143276751432817E06745720
chr35137749751377681E068-9366
chr35137768751378375E068-8672
chr35137851451378628E068-8419
chr35142082551420905E06833778
chr35142092651421007E06833879
chr35142435951424485E06837312
chr35142493351425169E06837886
chr35142527151425321E06838224
chr35142563651425715E06838589
chr35142757151427675E06840524
chr35143021251430470E06843165
chr35143058851430642E06843541
chr35143089251431029E06843845
chr35143127751431319E06844230
chr35143137751431523E06844330
chr35143168251431749E06844635
chr35143214651432363E06845099
chr35137749751377681E069-9366
chr35137768751378375E069-8672
chr35137851451378628E069-8419
chr35142082551420905E06933778
chr35142092651421007E06933879
chr35142757151427675E06940524
chr35142993351430040E06942886
chr35143004951430198E06943002
chr35143021251430470E06943165
chr35143058851430642E06943541
chr35143089251431029E06943845
chr35142082551420905E07033778
chr35142092651421007E07033879
chr35142435951424485E07037312
chr35142493351425169E07037886
chr35143276751432817E07045720
chr35143320651433262E07046159
chr35143342151433521E07046374
chr35143380051434122E07046753
chr35143431951434401E07047272
chr35137749751377681E071-9366
chr35137768751378375E071-8672
chr35137851451378628E071-8419
chr35142493351425169E07137886
chr35142527151425321E07138224
chr35142563651425715E07138589
chr35142583751426520E07138790
chr35142678151427413E07139734
chr35142757151427675E07140524
chr35143021251430470E07143165
chr35143058851430642E07143541
chr35143089251431029E07143845
chr35143127751431319E07144230
chr35143137751431523E07144330
chr35143168251431749E07144635
chr35143214651432363E07145099
chr35143342151433521E07146374
chr35143380051434122E07146753
chr35137749751377681E072-9366
chr35137768751378375E072-8672
chr35137851451378628E072-8419
chr35139261251392704E0725565
chr35139296851393061E0725921
chr35142435951424485E07237312
chr35142493351425169E07237886
chr35142527151425321E07238224
chr35142563651425715E07238589
chr35142583751426520E07238790
chr35142678151427413E07239734
chr35142757151427675E07240524
chr35142993351430040E07242886
chr35143004951430198E07243002
chr35143021251430470E07243165
chr35143058851430642E07243541
chr35143089251431029E07243845
chr35143127751431319E07244230
chr35143137751431523E07244330
chr35143168251431749E07244635
chr35143214651432363E07245099
chr35143247251432525E07245425
chr35143276751432817E07245720
chr35143500051435097E07247953
chr35135039351350655E073-36392
chr35135160851351662E073-35385
chr35137749751377681E073-9366
chr35137768751378375E073-8672
chr35137851451378628E073-8419
chr35139261251392704E0735565
chr35142493351425169E07337886
chr35142527151425321E07338224
chr35142563651425715E07338589
chr35142583751426520E07338790
chr35142678151427413E07339734
chr35142757151427675E07340524
chr35143089251431029E07343845
chr35143127751431319E07344230
chr35143137751431523E07344330
chr35143168251431749E07344635
chr35143214651432363E07345099
chr35143247251432525E07345425
chr35143276751432817E07345720
chr35143320651433262E07346159
chr35143342151433521E07346374
chr35143380051434122E07346753
chr35137189451371971E074-15076
chr35137749751377681E074-9366
chr35137768751378375E074-8672
chr35142082551420905E07433778
chr35142092651421007E07433879
chr35142757151427675E07440524
chr35143021251430470E07443165
chr35143058851430642E07443541
chr35143089251431029E07443845
chr35142082551420905E08133778
chr35142092651421007E08133879
chr35142435951424485E08137312
chr35142493351425169E08137886
chr35142527151425321E08138224
chr35142563651425715E08138589
chr35142993351430040E08142886
chr35143004951430198E08143002
chr35143021251430470E08143165
chr35143058851430642E08143541
chr35143089251431029E08143845
chr35143127751431319E08144230
chr35143137751431523E08144330
chr35143168251431749E08144635
chr35143214651432363E08145099
chr35143247251432525E08145425
chr35143276751432817E08145720
chr35143320651433262E08146159
chr35143342151433521E08146374
chr35143610251436252E08149055
chr35142082551420905E08233778
chr35142092651421007E08233879
chr35142563651425715E08238589
chr35143320651433262E08246159
chr35143342151433521E08246374










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35142161251423442E06734565
chr35142779951429928E06740752
chr35142161251423442E06834565
chr35142779951429928E06840752
chr35142161251423442E06934565
chr35142779951429928E06940752
chr35142161251423442E07034565
chr35142779951429928E07040752
chr35142161251423442E07134565
chr35142779951429928E07140752
chr35142161251423442E07234565
chr35142779951429928E07240752
chr35142161251423442E07334565
chr35142779951429928E07340752
chr35142161251423442E07434565
chr35142779951429928E07440752
chr35142161251423442E08134565
chr35142161251423442E08234565
chr35142779951429928E08240752