SOX6, SRY-box transcription factor 6, 55553

N. diseases: 105; N. variants: 46
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142511858
rs142511858
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE SOX6 mutation screening of another 104 craniosynostosis patients revealed one missense mutation leading to the exchange of a highly conserved amino acid (p.D68N) in a single patient and his reportedly healthy mother. 16258006 2006
dbSNP: rs297325
rs297325
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0029456
Disease:
Osteoporosis 		C 0.700 GeneticVariation GWASCAT Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. 19714249 2009
dbSNP: rs297325
rs297325
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0028754
Disease:
Obesity 		C 0.700 GeneticVariation GWASCAT Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. 19714249 2009
dbSNP: rs4756846
rs4756846
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0029456
Disease:
Osteoporosis 		C 0.700 GeneticVariation GWASCAT Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. 19714249 2009
dbSNP: rs4756846
rs4756846
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0028754
Disease:
Obesity 		C 0.700 GeneticVariation GWASCAT Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. 19714249 2009
dbSNP: rs1156725
rs1156725
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0005823
Disease:
Blood Pressure 		0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
dbSNP: rs1595373
rs1595373
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0005823
Disease:
Blood Pressure 		0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
dbSNP: rs2014408
rs2014408
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0005823
Disease:
Blood Pressure 		0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2011
dbSNP: rs6486291
rs6486291
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs6486291
rs6486291
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7925853
rs7925853
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7925853
rs7925853
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7925853
rs7925853
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7925853
rs7925853
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1401454
rs1401454
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0005823
Disease:
Blood Pressure 		T 0.700 GeneticVariation GWASDB Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. 23972371 2013
dbSNP: rs1401454
rs1401454
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. 23972371 2013
dbSNP: rs1401454
rs1401454
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. 23972371 2013
dbSNP: rs4757391
rs4757391
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428883
Disease:
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
dbSNP: rs4757391
rs4757391
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0577631
Disease:
Carotid Atherosclerosis 		0.010 GeneticVariation BEFREE In our study, we demonstrated the effect of the rs16933090 on coronary calcium score obtained at CCTA, whereas we did not demonstrate an important effect of the rs16933090 on either subclinical markers of carotid atherosclerosis or the presence of more than 50% stenotic lesions in coronary arteries in Caucasians with T2DM. 26868133 2016
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE The second aim of the study was to demonstrate an association between the rs16933090 and subclinical markers of coronary artery disease in the same subset of patients with T2DM. 26868133 2016
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0003850
Disease:
Arteriosclerosis 		0.010 GeneticVariation BEFREE We presume that the rs16933090 plays a minor role in the development of subclinical atherosclerosis in subjects with T2DM. 26868133 2016
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE The second aim of the study was to demonstrate an association between the rs16933090 and subclinical markers of coronary artery disease in the same subset of patients with T2DM. 26868133 2016
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE The second aim of the study was to demonstrate an association between the rs16933090 and subclinical markers of coronary artery disease in the same subset of patients with T2DM. 26868133 2016
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0004153
Disease:
Atherosclerosis 		0.010 GeneticVariation BEFREE We presume that the rs16933090 plays a minor role in the development of subclinical atherosclerosis in subjects with T2DM. 26868133 2016