rs3810308

Homo sapiens
T>C
DOCK6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0180 (17448/96928,ExAC)
C=0156 (4648/29800,GnomAD)
C=0154 (4486/29118,TOPMED)
T==0139 (1782/12806,GO-ESP)
C=0176 (882/5008,1000G)
C=0103 (397/3854,ALSPAC)
C=0099 (368/3708,TWINSUK)
chr19:11222920 (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.11222920T>C
GRCh37.p13 chr 19NC_000019.9:g.11333596T>C
DOCK6 RefSeqGeneNG_031953.1:g.44573A>G

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/AIntron Variant
DOCK6 transcript variant X8XR_936198.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.787C=0.213
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.766C=0.234
1000GenomesEuropeSub1006T=0.912C=0.088
1000GenomesGlobalStudy-wide5008T=0.824C=0.176
1000GenomesSouth AsianSub978T=0.860C=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.897C=0.103
The Exome Aggregation ConsortiumAmericanSub16534T=0.701C=0.298
The Exome Aggregation ConsortiumAsianSub21534T=0.792C=0.208
The Exome Aggregation ConsortiumEuropeSub58160T=0.863C=0.136
The Exome Aggregation ConsortiumGlobalStudy-wide96928T=0.820C=0.180
The Exome Aggregation ConsortiumOtherSub700T=0.860C=0.140
The Genome Aggregation DatabaseAfricanSub8658T=0.806C=0.194
The Genome Aggregation DatabaseAmericanSub834T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1618T=0.720C=0.280
The Genome Aggregation DatabaseEuropeSub18388T=0.875C=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29800T=0.844C=0.156
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.845C=0.154
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.901C=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
rs38103080.000176alcohol consumption23743675

eQTL of rs3810308 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 rs3810308 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 )
chr191137390811374000E06740312
chr191131306311315201E069-18395
chr191137860411378708E06945008
chr191131306311315201E071-18395
chr191131530111316083E071-17513
chr191130905511309282E072-24314
chr191130945011309507E072-24089
chr191130959111309978E072-23618
chr191130998311310186E072-23410
chr191131306311315201E072-18395
chr191131530111316083E072-17513
chr191130905511309282E073-24314
chr191131306311315201E073-18395
chr191131530111316083E073-17513
chr191135940911359490E07325813
chr191136677711367336E07333181
chr191130441911304473E074-29123
chr191130453811304596E074-29000
chr191135381311354843E08120217







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191130705711307237E067-26359
chr191130727111309053E067-24543
chr191137196411373729E06738368
chr191130705711307237E068-26359
chr191130727111309053E068-24543
chr191137196411373729E06838368
chr191130705711307237E069-26359
chr191130727111309053E069-24543
chr191137196411373729E06938368
chr191130727111309053E070-24543
chr191130705711307237E071-26359
chr191130727111309053E071-24543
chr191137196411373729E07138368
chr191130705711307237E072-26359
chr191130727111309053E072-24543
chr191137196411373729E07238368
chr191130705711307237E073-26359
chr191130727111309053E073-24543
chr191137196411373729E07338368
chr191130705711307237E074-26359
chr191130727111309053E074-24543
chr191137196411373729E07438368
chr191130727111309053E082-24543