rs4974096

Homo sapiens
G>A
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0063 (1903/29950,GnomAD)
A=0071 (2070/29118,TOPMED)
A=0142 (712/5008,1000G)
A=0019 (74/3854,ALSPAC)
A=0014 (53/3708,TWINSUK)
chr3:51355615 (GRCh38.p7) (3p21.2)
AD
GWASdb2
2   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.51355615G>A
GRCh37.p13 chr 3NC_000003.11:g.51393046G>A
DOCK3 RefSeqGeneNG_028012.1:g.685375G>A

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
1000GenomesAfricanSub1322G=0.906A=0.094
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.644A=0.356
1000GenomesEuropeSub1006G=0.980A=0.020
1000GenomesGlobalStudy-wide5008G=0.858A=0.142
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.981A=0.019
The Genome Aggregation DatabaseAfricanSub8714G=0.928A=0.072
The Genome Aggregation DatabaseAmericanSub838G=0.640A=0.360
The Genome Aggregation DatabaseEast AsianSub1614G=0.656A=0.344
The Genome Aggregation DatabaseEuropeSub18482G=0.977A=0.022
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.936A=0.063
The Genome Aggregation DatabaseOtherSub302G=0.990A=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.928A=0.071
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
19100872A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.Haldeman-Englert CREur J Med Genet

P-Value

SNP ID p-value Traits Study
rs49740960.000818alcohol dependence20201924

eQTL of rs4974096 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 rs4974096 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 )
chr35137749751377681E067-15365
chr35137768751378375E067-14671
chr35137851451378628E067-14418
chr35143058851430642E06737542
chr35143089251431029E06737846
chr35143127751431319E06738231
chr35143137751431523E06738331
chr35143168251431749E06738636
chr35143214651432363E06739100
chr35143247251432525E06739426
chr35143276751432817E06739721
chr35137749751377681E068-15365
chr35137768751378375E068-14671
chr35137851451378628E068-14418
chr35142082551420905E06827779
chr35142092651421007E06827880
chr35142435951424485E06831313
chr35142493351425169E06831887
chr35142527151425321E06832225
chr35142563651425715E06832590
chr35142757151427675E06834525
chr35143021251430470E06837166
chr35143058851430642E06837542
chr35143089251431029E06837846
chr35143127751431319E06838231
chr35143137751431523E06838331
chr35143168251431749E06838636
chr35143214651432363E06839100
chr35137749751377681E069-15365
chr35137768751378375E069-14671
chr35137851451378628E069-14418
chr35142082551420905E06927779
chr35142092651421007E06927880
chr35142757151427675E06934525
chr35142993351430040E06936887
chr35143004951430198E06937003
chr35143021251430470E06937166
chr35143058851430642E06937542
chr35143089251431029E06937846
chr35142082551420905E07027779
chr35142092651421007E07027880
chr35142435951424485E07031313
chr35142493351425169E07031887
chr35143276751432817E07039721
chr35143320651433262E07040160
chr35143342151433521E07040375
chr35143380051434122E07040754
chr35143431951434401E07041273
chr35137749751377681E071-15365
chr35137768751378375E071-14671
chr35137851451378628E071-14418
chr35142493351425169E07131887
chr35142527151425321E07132225
chr35142563651425715E07132590
chr35142583751426520E07132791
chr35142678151427413E07133735
chr35142757151427675E07134525
chr35143021251430470E07137166
chr35143058851430642E07137542
chr35143089251431029E07137846
chr35143127751431319E07138231
chr35143137751431523E07138331
chr35143168251431749E07138636
chr35143214651432363E07139100
chr35143342151433521E07140375
chr35143380051434122E07140754
chr35137749751377681E072-15365
chr35137768751378375E072-14671
chr35137851451378628E072-14418
chr35139261251392704E072-342
chr35139296851393061E0720
chr35142435951424485E07231313
chr35142493351425169E07231887
chr35142527151425321E07232225
chr35142563651425715E07232590
chr35142583751426520E07232791
chr35142678151427413E07233735
chr35142757151427675E07234525
chr35142993351430040E07236887
chr35143004951430198E07237003
chr35143021251430470E07237166
chr35143058851430642E07237542
chr35143089251431029E07237846
chr35143127751431319E07238231
chr35143137751431523E07238331
chr35143168251431749E07238636
chr35143214651432363E07239100
chr35143247251432525E07239426
chr35143276751432817E07239721
chr35143500051435097E07241954
chr35135039351350655E073-42391
chr35135160851351662E073-41384
chr35137749751377681E073-15365
chr35137768751378375E073-14671
chr35137851451378628E073-14418
chr35139261251392704E073-342
chr35142493351425169E07331887
chr35142527151425321E07332225
chr35142563651425715E07332590
chr35142583751426520E07332791
chr35142678151427413E07333735
chr35142757151427675E07334525
chr35143089251431029E07337846
chr35143127751431319E07338231
chr35143137751431523E07338331
chr35143168251431749E07338636
chr35143214651432363E07339100
chr35143247251432525E07339426
chr35143276751432817E07339721
chr35143320651433262E07340160
chr35143342151433521E07340375
chr35143380051434122E07340754
chr35137189451371971E074-21075
chr35137749751377681E074-15365
chr35137768751378375E074-14671
chr35142082551420905E07427779
chr35142092651421007E07427880
chr35142757151427675E07434525
chr35143021251430470E07437166
chr35143058851430642E07437542
chr35143089251431029E07437846
chr35142082551420905E08127779
chr35142092651421007E08127880
chr35142435951424485E08131313
chr35142493351425169E08131887
chr35142527151425321E08132225
chr35142563651425715E08132590
chr35142993351430040E08136887
chr35143004951430198E08137003
chr35143021251430470E08137166
chr35143058851430642E08137542
chr35143089251431029E08137846
chr35143127751431319E08138231
chr35143137751431523E08138331
chr35143168251431749E08138636
chr35143214651432363E08139100
chr35143247251432525E08139426
chr35143276751432817E08139721
chr35143320651433262E08140160
chr35143342151433521E08140375
chr35143610251436252E08143056
chr35142082551420905E08227779
chr35142092651421007E08227880
chr35142563651425715E08232590
chr35143320651433262E08240160
chr35143342151433521E08240375










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35142161251423442E06728566
chr35142779951429928E06734753
chr35142161251423442E06828566
chr35142779951429928E06834753
chr35142161251423442E06928566
chr35142779951429928E06934753
chr35142161251423442E07028566
chr35142779951429928E07034753
chr35142161251423442E07128566
chr35142779951429928E07134753
chr35142161251423442E07228566
chr35142779951429928E07234753
chr35142161251423442E07328566
chr35142779951429928E07334753
chr35142161251423442E07428566
chr35142779951429928E07434753
chr35142161251423442E08128566
chr35142161251423442E08228566
chr35142779951429928E08234753