rs7630259

Homo sapiens
G>A
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0034 (1040/29968,GnomAD)
A=0050 (1477/29118,TOPMED)
A=0045 (226/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0001 (3/3708,TWINSUK)
chr3:51341117 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.51341117G>A
GRCh37.p13 chr 3NC_000003.11:g.51378548G>A
DOCK3 RefSeqGeneNG_028012.1:g.670877G>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=0.840A=0.160
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.955A=0.045
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8720G=0.885A=0.115
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1620G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18488G=0.998A=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29968G=0.965A=0.034
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.949A=0.050
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.999A=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
rs76302590.000813alcohol dependence20201924

eQTL of rs7630259 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 rs7630259 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 )
chr35137749751377681E067-867
chr35137768751378375E067-173
chr35137851451378628E0670
chr35137749751377681E068-867
chr35137768751378375E068-173
chr35137851451378628E0680
chr35142082551420905E06842277
chr35142092651421007E06842378
chr35142435951424485E06845811
chr35142493351425169E06846385
chr35142527151425321E06846723
chr35142563651425715E06847088
chr35142757151427675E06849023
chr35137749751377681E069-867
chr35137768751378375E069-173
chr35137851451378628E0690
chr35142082551420905E06942277
chr35142092651421007E06942378
chr35142757151427675E06949023
chr35142082551420905E07042277
chr35142092651421007E07042378
chr35142435951424485E07045811
chr35142493351425169E07046385
chr35137749751377681E071-867
chr35137768751378375E071-173
chr35137851451378628E0710
chr35142493351425169E07146385
chr35142527151425321E07146723
chr35142563651425715E07147088
chr35142583751426520E07147289
chr35142678151427413E07148233
chr35142757151427675E07149023
chr35137749751377681E072-867
chr35137768751378375E072-173
chr35137851451378628E0720
chr35139261251392704E07214064
chr35139296851393061E07214420
chr35142435951424485E07245811
chr35142493351425169E07246385
chr35142527151425321E07246723
chr35142563651425715E07247088
chr35142583751426520E07247289
chr35142678151427413E07248233
chr35142757151427675E07249023
chr35135039351350655E073-27893
chr35135160851351662E073-26886
chr35137749751377681E073-867
chr35137768751378375E073-173
chr35137851451378628E0730
chr35139261251392704E07314064
chr35142493351425169E07346385
chr35142527151425321E07346723
chr35142563651425715E07347088
chr35142583751426520E07347289
chr35142678151427413E07348233
chr35142757151427675E07349023
chr35137189451371971E074-6577
chr35137749751377681E074-867
chr35137768751378375E074-173
chr35142082551420905E07442277
chr35142092651421007E07442378
chr35142757151427675E07449023
chr35142082551420905E08142277
chr35142092651421007E08142378
chr35142435951424485E08145811
chr35142493351425169E08146385
chr35142527151425321E08146723
chr35142563651425715E08147088
chr35142082551420905E08242277
chr35142092651421007E08242378
chr35142563651425715E08247088










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35142161251423442E06743064
chr35142161251423442E06843064
chr35142161251423442E06943064
chr35142161251423442E07043064
chr35142161251423442E07143064
chr35142161251423442E07243064
chr35142161251423442E07343064
chr35142161251423442E07443064
chr35142161251423442E08143064
chr35142161251423442E08243064