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: rs1455114
rs1455114
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.010 GeneticVariation BEFREE There was no significant association of rs1455114 with AIS. 30994600 2019
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
dbSNP: rs16933090
rs16933090
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		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: rs10741688
rs10741688
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10741688
rs10741688
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10766309
rs10766309
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428886
Disease:
Mean blood pressure 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs10766309
rs10766309
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0001948
Disease:
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs10832571
rs10832571
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10832586
rs10832586
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10832648
rs10832648
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11023895
rs11023895
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11023895
rs11023895
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11023906
rs11023906
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C1306620
Disease:
Systolic blood pressure measurement 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs11023906
rs11023906
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0001948
Disease:
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs11023906
rs11023906
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1156725
rs1156725
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016
dbSNP: rs1156725
rs1156725
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016
dbSNP: rs12365482
rs12365482
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12799126
rs12799126
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018