rs2306431

Homo sapiens
C>T
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0063 (1898/29952,GnomAD)
T=0071 (2069/29118,TOPMED)
T=0142 (710/5008,1000G)
T=0019 (74/3854,ALSPAC)
T=0014 (53/3708,TWINSUK)
chr3:51356026 (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.51356026C>T
GRCh37.p13 chr 3NC_000003.11:g.51393457C>T
DOCK3 RefSeqGeneNG_028012.1:g.685786C>T

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
1000GenomesAfricanSub1322C=0.906T=0.094
1000GenomesAmericanSub694C=0.760T=0.240
1000GenomesEast AsianSub1008C=0.644T=0.356
1000GenomesEuropeSub1006C=0.980T=0.020
1000GenomesGlobalStudy-wide5008C=0.858T=0.142
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.981T=0.019
The Genome Aggregation DatabaseAfricanSub8726C=0.928T=0.072
The Genome Aggregation DatabaseAmericanSub838C=0.640T=0.360
The Genome Aggregation DatabaseEast AsianSub1600C=0.656T=0.344
The Genome Aggregation DatabaseEuropeSub18486C=0.977T=0.022
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.936T=0.063
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.928T=0.071
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.986T=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
rs23064310.000818alcohol dependence20201924

eQTL of rs2306431 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 rs2306431 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 )
chr35137749751377681E067-15776
chr35137768751378375E067-15082
chr35137851451378628E067-14829
chr35143058851430642E06737131
chr35143089251431029E06737435
chr35143127751431319E06737820
chr35143137751431523E06737920
chr35143168251431749E06738225
chr35143214651432363E06738689
chr35143247251432525E06739015
chr35143276751432817E06739310
chr35137749751377681E068-15776
chr35137768751378375E068-15082
chr35137851451378628E068-14829
chr35142082551420905E06827368
chr35142092651421007E06827469
chr35142435951424485E06830902
chr35142493351425169E06831476
chr35142527151425321E06831814
chr35142563651425715E06832179
chr35142757151427675E06834114
chr35143021251430470E06836755
chr35143058851430642E06837131
chr35143089251431029E06837435
chr35143127751431319E06837820
chr35143137751431523E06837920
chr35143168251431749E06838225
chr35143214651432363E06838689
chr35137749751377681E069-15776
chr35137768751378375E069-15082
chr35137851451378628E069-14829
chr35142082551420905E06927368
chr35142092651421007E06927469
chr35142757151427675E06934114
chr35142993351430040E06936476
chr35143004951430198E06936592
chr35143021251430470E06936755
chr35143058851430642E06937131
chr35143089251431029E06937435
chr35142082551420905E07027368
chr35142092651421007E07027469
chr35142435951424485E07030902
chr35142493351425169E07031476
chr35143276751432817E07039310
chr35143320651433262E07039749
chr35143342151433521E07039964
chr35143380051434122E07040343
chr35143431951434401E07040862
chr35137749751377681E071-15776
chr35137768751378375E071-15082
chr35137851451378628E071-14829
chr35142493351425169E07131476
chr35142527151425321E07131814
chr35142563651425715E07132179
chr35142583751426520E07132380
chr35142678151427413E07133324
chr35142757151427675E07134114
chr35143021251430470E07136755
chr35143058851430642E07137131
chr35143089251431029E07137435
chr35143127751431319E07137820
chr35143137751431523E07137920
chr35143168251431749E07138225
chr35143214651432363E07138689
chr35143342151433521E07139964
chr35143380051434122E07140343
chr35137749751377681E072-15776
chr35137768751378375E072-15082
chr35137851451378628E072-14829
chr35139261251392704E072-753
chr35139296851393061E072-396
chr35142435951424485E07230902
chr35142493351425169E07231476
chr35142527151425321E07231814
chr35142563651425715E07232179
chr35142583751426520E07232380
chr35142678151427413E07233324
chr35142757151427675E07234114
chr35142993351430040E07236476
chr35143004951430198E07236592
chr35143021251430470E07236755
chr35143058851430642E07237131
chr35143089251431029E07237435
chr35143127751431319E07237820
chr35143137751431523E07237920
chr35143168251431749E07238225
chr35143214651432363E07238689
chr35143247251432525E07239015
chr35143276751432817E07239310
chr35143500051435097E07241543
chr35135039351350655E073-42802
chr35135160851351662E073-41795
chr35137749751377681E073-15776
chr35137768751378375E073-15082
chr35137851451378628E073-14829
chr35139261251392704E073-753
chr35142493351425169E07331476
chr35142527151425321E07331814
chr35142563651425715E07332179
chr35142583751426520E07332380
chr35142678151427413E07333324
chr35142757151427675E07334114
chr35143089251431029E07337435
chr35143127751431319E07337820
chr35143137751431523E07337920
chr35143168251431749E07338225
chr35143214651432363E07338689
chr35143247251432525E07339015
chr35143276751432817E07339310
chr35143320651433262E07339749
chr35143342151433521E07339964
chr35143380051434122E07340343
chr35137189451371971E074-21486
chr35137749751377681E074-15776
chr35137768751378375E074-15082
chr35142082551420905E07427368
chr35142092651421007E07427469
chr35142757151427675E07434114
chr35143021251430470E07436755
chr35143058851430642E07437131
chr35143089251431029E07437435
chr35142082551420905E08127368
chr35142092651421007E08127469
chr35142435951424485E08130902
chr35142493351425169E08131476
chr35142527151425321E08131814
chr35142563651425715E08132179
chr35142993351430040E08136476
chr35143004951430198E08136592
chr35143021251430470E08136755
chr35143058851430642E08137131
chr35143089251431029E08137435
chr35143127751431319E08137820
chr35143137751431523E08137920
chr35143168251431749E08138225
chr35143214651432363E08138689
chr35143247251432525E08139015
chr35143276751432817E08139310
chr35143320651433262E08139749
chr35143342151433521E08139964
chr35143610251436252E08142645
chr35142082551420905E08227368
chr35142092651421007E08227469
chr35142563651425715E08232179
chr35143320651433262E08239749
chr35143342151433521E08239964










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35142161251423442E06728155
chr35142779951429928E06734342
chr35142161251423442E06828155
chr35142779951429928E06834342
chr35142161251423442E06928155
chr35142779951429928E06934342
chr35142161251423442E07028155
chr35142779951429928E07034342
chr35142161251423442E07128155
chr35142779951429928E07134342
chr35142161251423442E07228155
chr35142779951429928E07234342
chr35142161251423442E07328155
chr35142779951429928E07334342
chr35142161251423442E07428155
chr35142779951429928E07434342
chr35142161251423442E08128155
chr35142161251423442E08228155
chr35142779951429928E08234342