rs3826815

Homo sapiens
C>T
DOCK6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0155 (18539/119526,ExAC)
T=0155 (4649/29942,GnomAD)
T=0153 (4456/29118,TOPMED)
C==0135 (1696/12554,GO-ESP)
T=0174 (869/5008,1000G)
T=0103 (397/3854,ALSPAC)
T=0099 (367/3708,TWINSUK)
chr19:11221829 (GRCh38.p7) (19p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
23 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.11221829C>T
GRCh37.p13 chr 19NC_000019.9:g.11332505C>T
DOCK6 RefSeqGeneNG_031953.1:g.45664G>A

Gene: DOCK6, dedicator of cytokinesis 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DOCK6 transcriptNM_020812.3:c.N/AIntron Variant
DOCK6 transcript variant X6XM_005260000.2:c.N/AIntron Variant
DOCK6 transcript variant X3XM_005260001.2:c.N/AIntron Variant
DOCK6 transcript variant X5XM_006722804.3:c.N/AIntron Variant
DOCK6 transcript variant X1XM_011528150.1:c.N/AIntron Variant
DOCK6 transcript variant X2XM_011528151.1:c.N/AIntron Variant
DOCK6 transcript variant X4XM_011528152.1:c.N/AIntron Variant
DOCK6 transcript variant X6XR_936196.2:n.N/AIntron Variant
DOCK6 transcript variant X7XR_936197.2:n.N/AGenic Downstream Transcript Variant
DOCK6 transcript variant X8XR_936198.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.790T=0.210
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.769T=0.231
1000GenomesEuropeSub1006C=0.912T=0.088
1000GenomesGlobalStudy-wide5008C=0.826T=0.174
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.897T=0.103
The Exome Aggregation ConsortiumAmericanSub21116C=0.749T=0.250
The Exome Aggregation ConsortiumAsianSub25092C=0.815T=0.184
The Exome Aggregation ConsortiumEuropeSub72430C=0.882T=0.117
The Exome Aggregation ConsortiumGlobalStudy-wide119526C=0.844T=0.155
The Exome Aggregation ConsortiumOtherSub888C=0.870T=0.130
The Genome Aggregation DatabaseAfricanSub8714C=0.807T=0.193
The Genome Aggregation DatabaseAmericanSub838C=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1610C=0.723T=0.277
The Genome Aggregation DatabaseEuropeSub18478C=0.875T=0.124
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.844T=0.155
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.847T=0.153
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.901T=0.099
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs38268150.000177alcohol consumption23743675

eQTL of rs3826815 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 rs3826815 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 )
chr191137390811374000E06741403
chr191131306311315201E069-17304
chr191137860411378708E06946099
chr191131306311315201E071-17304
chr191131530111316083E071-16422
chr191130905511309282E072-23223
chr191130945011309507E072-22998
chr191130959111309978E072-22527
chr191130998311310186E072-22319
chr191131306311315201E072-17304
chr191131530111316083E072-16422
chr191130905511309282E073-23223
chr191131306311315201E073-17304
chr191131530111316083E073-16422
chr191135940911359490E07326904
chr191136677711367336E07334272
chr191130441911304473E074-28032
chr191130453811304596E074-27909
chr191135381311354843E08121308







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191130705711307237E067-25268
chr191130727111309053E067-23452
chr191137196411373729E06739459
chr191130705711307237E068-25268
chr191130727111309053E068-23452
chr191137196411373729E06839459
chr191130705711307237E069-25268
chr191130727111309053E069-23452
chr191137196411373729E06939459
chr191130727111309053E070-23452
chr191130705711307237E071-25268
chr191130727111309053E071-23452
chr191137196411373729E07139459
chr191130705711307237E072-25268
chr191130727111309053E072-23452
chr191137196411373729E07239459
chr191130705711307237E073-25268
chr191130727111309053E073-23452
chr191137196411373729E07339459
chr191130705711307237E074-25268
chr191130727111309053E074-23452
chr191137196411373729E07439459
chr191130727111309053E082-23452