rs7635095

Homo sapiens
C>T
DOCK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0034 (1041/29978,GnomAD)
T=0050 (1475/29118,TOPMED)
T=0046 (228/5008,1000G)
T=0001 (4/3854,ALSPAC)
T=0001 (5/3708,TWINSUK)
chr3:51345221 (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.51345221C>T
GRCh37.p13 chr 3NC_000003.11:g.51382652C>T
DOCK3 RefSeqGeneNG_028012.1:g.674981C>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=0.840T=0.160
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.999T=0.001
1000GenomesGlobalStudy-wide5008C=0.954T=0.046
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.999T=0.001
The Genome Aggregation DatabaseAfricanSub8718C=0.885T=0.115
The Genome Aggregation DatabaseAmericanSub836C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18502C=0.998T=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.965T=0.034
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.949T=0.050
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=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
rs76350950.000894alcohol dependence20201924

eQTL of rs7635095 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 rs7635095 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 )
chr35137749751377681E067-4971
chr35137768751378375E067-4277
chr35137851451378628E067-4024
chr35143058851430642E06747936
chr35143089251431029E06748240
chr35143127751431319E06748625
chr35143137751431523E06748725
chr35143168251431749E06749030
chr35143214651432363E06749494
chr35143247251432525E06749820
chr35137749751377681E068-4971
chr35137768751378375E068-4277
chr35137851451378628E068-4024
chr35142082551420905E06838173
chr35142092651421007E06838274
chr35142435951424485E06841707
chr35142493351425169E06842281
chr35142527151425321E06842619
chr35142563651425715E06842984
chr35142757151427675E06844919
chr35143021251430470E06847560
chr35143058851430642E06847936
chr35143089251431029E06848240
chr35143127751431319E06848625
chr35143137751431523E06848725
chr35143168251431749E06849030
chr35143214651432363E06849494
chr35137749751377681E069-4971
chr35137768751378375E069-4277
chr35137851451378628E069-4024
chr35142082551420905E06938173
chr35142092651421007E06938274
chr35142757151427675E06944919
chr35142993351430040E06947281
chr35143004951430198E06947397
chr35143021251430470E06947560
chr35143058851430642E06947936
chr35143089251431029E06948240
chr35142082551420905E07038173
chr35142092651421007E07038274
chr35142435951424485E07041707
chr35142493351425169E07042281
chr35137749751377681E071-4971
chr35137768751378375E071-4277
chr35137851451378628E071-4024
chr35142493351425169E07142281
chr35142527151425321E07142619
chr35142563651425715E07142984
chr35142583751426520E07143185
chr35142678151427413E07144129
chr35142757151427675E07144919
chr35143021251430470E07147560
chr35143058851430642E07147936
chr35143089251431029E07148240
chr35143127751431319E07148625
chr35143137751431523E07148725
chr35143168251431749E07149030
chr35143214651432363E07149494
chr35137749751377681E072-4971
chr35137768751378375E072-4277
chr35137851451378628E072-4024
chr35139261251392704E0729960
chr35139296851393061E07210316
chr35142435951424485E07241707
chr35142493351425169E07242281
chr35142527151425321E07242619
chr35142563651425715E07242984
chr35142583751426520E07243185
chr35142678151427413E07244129
chr35142757151427675E07244919
chr35142993351430040E07247281
chr35143004951430198E07247397
chr35143021251430470E07247560
chr35143058851430642E07247936
chr35143089251431029E07248240
chr35143127751431319E07248625
chr35143137751431523E07248725
chr35143168251431749E07249030
chr35143214651432363E07249494
chr35143247251432525E07249820
chr35135039351350655E073-31997
chr35135160851351662E073-30990
chr35137749751377681E073-4971
chr35137768751378375E073-4277
chr35137851451378628E073-4024
chr35139261251392704E0739960
chr35142493351425169E07342281
chr35142527151425321E07342619
chr35142563651425715E07342984
chr35142583751426520E07343185
chr35142678151427413E07344129
chr35142757151427675E07344919
chr35143089251431029E07348240
chr35143127751431319E07348625
chr35143137751431523E07348725
chr35143168251431749E07349030
chr35143214651432363E07349494
chr35143247251432525E07349820
chr35137189451371971E074-10681
chr35137749751377681E074-4971
chr35137768751378375E074-4277
chr35142082551420905E07438173
chr35142092651421007E07438274
chr35142757151427675E07444919
chr35143021251430470E07447560
chr35143058851430642E07447936
chr35143089251431029E07448240
chr35142082551420905E08138173
chr35142092651421007E08138274
chr35142435951424485E08141707
chr35142493351425169E08142281
chr35142527151425321E08142619
chr35142563651425715E08142984
chr35142993351430040E08147281
chr35143004951430198E08147397
chr35143021251430470E08147560
chr35143058851430642E08147936
chr35143089251431029E08148240
chr35143127751431319E08148625
chr35143137751431523E08148725
chr35143168251431749E08149030
chr35143214651432363E08149494
chr35143247251432525E08149820
chr35142082551420905E08238173
chr35142092651421007E08238274
chr35142563651425715E08242984










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35142161251423442E06738960
chr35142779951429928E06745147
chr35142161251423442E06838960
chr35142779951429928E06845147
chr35142161251423442E06938960
chr35142779951429928E06945147
chr35142161251423442E07038960
chr35142779951429928E07045147
chr35142161251423442E07138960
chr35142779951429928E07145147
chr35142161251423442E07238960
chr35142779951429928E07245147
chr35142161251423442E07338960
chr35142779951429928E07345147
chr35142161251423442E07438960
chr35142779951429928E07445147
chr35142161251423442E08138960
chr35142161251423442E08238960
chr35142779951429928E08245147