rs7642077

Homo sapiens
T>C
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0034 (1037/29984,GnomAD)
C=0050 (1470/29118,TOPMED)
C=0045 (224/5008,1000G)
C=0001 (3/3854,ALSPAC)
C=0001 (2/3708,TWINSUK)
chr3:51345170 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.51345170T>C
GRCh37.p13 chr 3NC_000003.11:g.51382601T>C
DOCK3 RefSeqGeneNG_028012.1:g.674930T>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=0.840C=0.160
1000GenomesAmericanSub694T=0.980C=0.020
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.999C=0.001
1000GenomesGlobalStudy-wide5008T=0.955C=0.045
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 DatabaseAfricanSub8728T=0.885C=0.115
The Genome Aggregation DatabaseAmericanSub838T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18494T=0.998C=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29984T=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
rs76420770.000894alcohol dependence20201924

eQTL of rs7642077 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 rs7642077 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 )
chr35137749751377681E067-4920
chr35137768751378375E067-4226
chr35137851451378628E067-3973
chr35143058851430642E06747987
chr35143089251431029E06748291
chr35143127751431319E06748676
chr35143137751431523E06748776
chr35143168251431749E06749081
chr35143214651432363E06749545
chr35143247251432525E06749871
chr35137749751377681E068-4920
chr35137768751378375E068-4226
chr35137851451378628E068-3973
chr35142082551420905E06838224
chr35142092651421007E06838325
chr35142435951424485E06841758
chr35142493351425169E06842332
chr35142527151425321E06842670
chr35142563651425715E06843035
chr35142757151427675E06844970
chr35143021251430470E06847611
chr35143058851430642E06847987
chr35143089251431029E06848291
chr35143127751431319E06848676
chr35143137751431523E06848776
chr35143168251431749E06849081
chr35143214651432363E06849545
chr35137749751377681E069-4920
chr35137768751378375E069-4226
chr35137851451378628E069-3973
chr35142082551420905E06938224
chr35142092651421007E06938325
chr35142757151427675E06944970
chr35142993351430040E06947332
chr35143004951430198E06947448
chr35143021251430470E06947611
chr35143058851430642E06947987
chr35143089251431029E06948291
chr35142082551420905E07038224
chr35142092651421007E07038325
chr35142435951424485E07041758
chr35142493351425169E07042332
chr35137749751377681E071-4920
chr35137768751378375E071-4226
chr35137851451378628E071-3973
chr35142493351425169E07142332
chr35142527151425321E07142670
chr35142563651425715E07143035
chr35142583751426520E07143236
chr35142678151427413E07144180
chr35142757151427675E07144970
chr35143021251430470E07147611
chr35143058851430642E07147987
chr35143089251431029E07148291
chr35143127751431319E07148676
chr35143137751431523E07148776
chr35143168251431749E07149081
chr35143214651432363E07149545
chr35137749751377681E072-4920
chr35137768751378375E072-4226
chr35137851451378628E072-3973
chr35139261251392704E07210011
chr35139296851393061E07210367
chr35142435951424485E07241758
chr35142493351425169E07242332
chr35142527151425321E07242670
chr35142563651425715E07243035
chr35142583751426520E07243236
chr35142678151427413E07244180
chr35142757151427675E07244970
chr35142993351430040E07247332
chr35143004951430198E07247448
chr35143021251430470E07247611
chr35143058851430642E07247987
chr35143089251431029E07248291
chr35143127751431319E07248676
chr35143137751431523E07248776
chr35143168251431749E07249081
chr35143214651432363E07249545
chr35143247251432525E07249871
chr35135039351350655E073-31946
chr35135160851351662E073-30939
chr35137749751377681E073-4920
chr35137768751378375E073-4226
chr35137851451378628E073-3973
chr35139261251392704E07310011
chr35142493351425169E07342332
chr35142527151425321E07342670
chr35142563651425715E07343035
chr35142583751426520E07343236
chr35142678151427413E07344180
chr35142757151427675E07344970
chr35143089251431029E07348291
chr35143127751431319E07348676
chr35143137751431523E07348776
chr35143168251431749E07349081
chr35143214651432363E07349545
chr35143247251432525E07349871
chr35137189451371971E074-10630
chr35137749751377681E074-4920
chr35137768751378375E074-4226
chr35142082551420905E07438224
chr35142092651421007E07438325
chr35142757151427675E07444970
chr35143021251430470E07447611
chr35143058851430642E07447987
chr35143089251431029E07448291
chr35142082551420905E08138224
chr35142092651421007E08138325
chr35142435951424485E08141758
chr35142493351425169E08142332
chr35142527151425321E08142670
chr35142563651425715E08143035
chr35142993351430040E08147332
chr35143004951430198E08147448
chr35143021251430470E08147611
chr35143058851430642E08147987
chr35143089251431029E08148291
chr35143127751431319E08148676
chr35143137751431523E08148776
chr35143168251431749E08149081
chr35143214651432363E08149545
chr35143247251432525E08149871
chr35142082551420905E08238224
chr35142092651421007E08238325
chr35142563651425715E08243035










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35142161251423442E06739011
chr35142779951429928E06745198
chr35142161251423442E06839011
chr35142779951429928E06845198
chr35142161251423442E06939011
chr35142779951429928E06945198
chr35142161251423442E07039011
chr35142779951429928E07045198
chr35142161251423442E07139011
chr35142779951429928E07145198
chr35142161251423442E07239011
chr35142779951429928E07245198
chr35142161251423442E07339011
chr35142779951429928E07345198
chr35142161251423442E07439011
chr35142779951429928E07445198
chr35142161251423442E08139011
chr35142161251423442E08239011
chr35142779951429928E08245198