rs12348944

Homo sapiens
C>T
DOCK8 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0015 (1904/119380,ExAC)
T=0030 (908/29986,GnomAD)
T=0040 (1184/29118,TOPMED)
C==0033 (439/13006,GO-ESP)
T=0036 (179/5008,1000G)
T=0012 (48/3854,ALSPAC)
T=0013 (49/3708,TWINSUK)
chr9:377066 (GRCh38.p7) (9p24.3)
ND
GWASdb2
2   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.377066C>T
GRCh37.p13 chr 9NC_000009.11:g.377066C>T
DOCK8 RefSeqGene LRG_196

Gene: DOCK8, dedicator of cytokinesis 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DOCK8 transcript variant 1NM_203447.3:c.229...NM_203447.3:c.2295C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 1NP_982272.2:p.Ser...NP_982272.2:p.Ser765=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant 2NM_001190458.1:c....NM_001190458.1:c.2091C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 2NP_001177387.1:p....NP_001177387.1:p.Ser697=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant 3NM_001193536.1:c....NM_001193536.1:c.2091C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 3NP_001180465.1:p....NP_001180465.1:p.Ser697=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X1XM_017015173.1:c....XM_017015173.1:c.2091C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1XP_016870662.1:p....XP_016870662.1:p.Ser697=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X2XM_011518045.2:c....XM_011518045.2:c.2091C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2XP_011516347.1:p....XP_011516347.1:p.Ser697=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X3XM_011518046.2:c....XM_011518046.2:c.2157C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3XP_011516348.1:p....XP_011516348.1:p.Ser719=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X4XM_017015174.1:c....XM_017015174.1:c.2157C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3XP_016870663.1:p....XP_016870663.1:p.Ser719=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X5XM_011518047.2:c....XM_011518047.2:c.2091C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1XP_011516349.1:p....XP_011516349.1:p.Ser697=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X6XM_011518048.2:c....XM_011518048.2:c.2091C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1XP_011516350.1:p....XP_011516350.1:p.Ser697=S [Ser]> S [Ser]Synonymous Variant
DOCK8 transcript variant X7XM_011518049.2:c....XM_011518049.2:c.531C>TS [AGC]> S [AGT]Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X4XP_011516351.1:p....XP_011516351.1:p.Ser177=S [Ser]> S [Ser]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.893T=0.107
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.983T=0.017
1000GenomesGlobalStudy-wide5008C=0.964T=0.036
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.988T=0.012
The Exome Aggregation ConsortiumAmericanSub21636C=0.954T=0.045
The Exome Aggregation ConsortiumAsianSub24712C=0.994T=0.005
The Exome Aggregation ConsortiumEuropeSub72146C=0.989T=0.010
The Exome Aggregation ConsortiumGlobalStudy-wide119380C=0.984T=0.015
The Exome Aggregation ConsortiumOtherSub886C=0.980T=0.020
The Genome Aggregation DatabaseAfricanSub8724C=0.922T=0.078
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1620C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18502C=0.988T=0.011
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.969T=0.030
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.959T=0.040
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.987T=0.013
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
24033266A systematic approach to assessing the clinical significance of genetic variants.Duzkale HClin Genet

P-Value

SNP ID p-value Traits Study
rs123489442.8E-05alcohol and nictotine co-dependence20158304

eQTL of rs12348944 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 rs12348944 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 )
chr9394845394921E06717779
chr9395032395147E06717966
chr9394474394732E06817408
chr9394744394784E06817678
chr9394845394921E06817779
chr9395032395147E06817966
chr9396691396764E06819625
chr9393875393925E06916809
chr9394474394732E06917408
chr9394744394784E06917678
chr9394845394921E06917779
chr9395032395147E06917966
chr9394474394732E07117408
chr9394744394784E07117678
chr9394845394921E07117779
chr9395032395147E07117966
chr9394474394732E07217408
chr9394744394784E07217678
chr9394845394921E07217779
chr9395032395147E07217966
chr9396436396485E07219370
chr9396504396591E07219438
chr9396691396764E07219625
chr9394474394732E07417408
chr9394744394784E07417678
chr9394845394921E07417779
chr9395032395147E07417966
chr9415684415889E08138618