DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10406522
rs10406522
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0155567
Disease:
Rheumatic aortic stenosis 		C 0.700 GeneticVariation GWASCAT Genome-wide analysis yields new loci associating with aortic valve stenosis. 29511194 2018
dbSNP: rs1280482569
rs1280482569
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 25824905 2015
dbSNP: rs1280482569
rs1280482569
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. 28884918 2017
dbSNP: rs1280482569
rs1280482569
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
dbSNP: rs1280482569
rs1280482569
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25724810 2015
dbSNP: rs1280482569
rs1280482569
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs12979813
rs12979813
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. 23726366 2013
dbSNP: rs12979813
rs12979813
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. 23726366 2013
dbSNP: rs12979813
rs12979813
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12979813
rs12979813
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12979813
rs12979813
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12979813
rs12979813
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. 23726366 2013
dbSNP: rs145464906
rs145464906
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASCAT Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361C>T; p.Gln121*], PAFAH1B2 rs186808413 [c.482C>T; p.Ser161Leu], COL18A1 rs114139997 [c.331G>A; p.Gly111Arg], and PCSK7 rs142953140 [c.1511G>A; p.Arg504His]) with large effects on HDL-C and/or triglycerides. 24507774 2014
dbSNP: rs145464906
rs145464906
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE We found no significant association of p.Q121X with either fasting glucose or type 2 diabetes (p-value = 0.90 and 0.65, respectively). 26822414 2016
dbSNP: rs1555826472
rs1555826472
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C3280182
Disease:
ADAMS-OLIVER SYNDROME 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs17699089
rs17699089
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
dbSNP: rs17766692
rs17766692
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASCAT Genetically regulated gene expression underlies lipid traits in Hispanic cohorts. 31393916 2019
dbSNP: rs1865063
rs1865063
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs200472954
rs200472954
Entrez Id: 57572;105372273
Gene Symbol: DOCK6;LOC105372273
DOCK6;LOC105372273
CUI: C3280182
Disease:
ADAMS-OLIVER SYNDROME 2 		T 0.700 GeneticVariation CLINVAR Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
dbSNP: rs201387914
rs201387914
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C3280182
Disease:
ADAMS-OLIVER SYNDROME 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs2278426
rs2278426
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASDB Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. 23505323 2013
dbSNP: rs2278426
rs2278426
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. 23505323 2013
dbSNP: rs2278426
rs2278426
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs2278426
rs2278426
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2278426
rs2278426
Entrez Id: 55908;57572
Gene Symbol: ANGPTL8;DOCK6
ANGPTL8;DOCK6
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019