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: 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: 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: 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
dbSNP: rs12799126
rs12799126
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs12799126
rs12799126
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0001948
Disease:
Alcohol consumption 		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
dbSNP: rs12800049
rs12800049
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0005938
Disease:
Bone Density 		T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs12801635
rs12801635
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0005938
Disease:
Bone Density 		T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
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: 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