rs4804154

Homo sapiens
C>T
DOCK6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0155 (4636/29918,GnomAD)
T=0153 (4457/29118,TOPMED)
T=0175 (878/5008,1000G)
T=0102 (394/3854,ALSPAC)
T=0099 (367/3708,TWINSUK)
chr19:11223503 (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.11223503C>T
GRCh37.p13 chr 19NC_000019.9:g.11334179C>T
DOCK6 RefSeqGeneNG_031953.1:g.43990G>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/AIntron Variant
DOCK6 transcript variant X8XR_936198.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.790T=0.210
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.766T=0.234
1000GenomesEuropeSub1006C=0.912T=0.088
1000GenomesGlobalStudy-wide5008C=0.825T=0.175
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.898T=0.102
The Genome Aggregation DatabaseAfricanSub8710C=0.809T=0.191
The Genome Aggregation DatabaseAmericanSub832C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1610C=0.722T=0.278
The Genome Aggregation DatabaseEuropeSub18464C=0.875T=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.845T=0.155
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.846T=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
rs48041540.000125alcohol consumption23743675

eQTL of rs4804154 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 rs4804154 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 )
chr191137390811374000E06739729
chr191131306311315201E069-18978
chr191137860411378708E06944425
chr191131306311315201E071-18978
chr191131530111316083E071-18096
chr191130905511309282E072-24897
chr191130945011309507E072-24672
chr191130959111309978E072-24201
chr191130998311310186E072-23993
chr191131306311315201E072-18978
chr191131530111316083E072-18096
chr191130905511309282E073-24897
chr191131306311315201E073-18978
chr191131530111316083E073-18096
chr191135940911359490E07325230
chr191136677711367336E07332598
chr191130441911304473E074-29706
chr191130453811304596E074-29583
chr191135381311354843E08119634







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191130705711307237E067-26942
chr191130727111309053E067-25126
chr191137196411373729E06737785
chr191130705711307237E068-26942
chr191130727111309053E068-25126
chr191137196411373729E06837785
chr191130705711307237E069-26942
chr191130727111309053E069-25126
chr191137196411373729E06937785
chr191130727111309053E070-25126
chr191130705711307237E071-26942
chr191130727111309053E071-25126
chr191137196411373729E07137785
chr191130705711307237E072-26942
chr191130727111309053E072-25126
chr191137196411373729E07237785
chr191130705711307237E073-26942
chr191130727111309053E073-25126
chr191137196411373729E07337785
chr191130705711307237E074-26942
chr191130727111309053E074-25126
chr191137196411373729E07437785
chr191130727111309053E082-25126