Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10741688
rs10741688
SOX6
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10741688
rs10741688
SOX6
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10766309
rs10766309
SOX6
CUI: C0001948
Disease: Alcohol consumption
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: rs10766309
rs10766309
SOX6
CUI: C0428886
Disease: Mean blood pressure
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: rs10832571
rs10832571
SOX6
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10832586
rs10832586
SOX6
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10832648
rs10832648
SOX6
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs11023895
rs11023895
SOX6
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs11023895
rs11023895
SOX6
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs11023906
rs11023906
SOX6
CUI: C0001948
Disease: Alcohol consumption
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
SOX6
CUI: C0871470
Disease: Systolic Pressure
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: rs11023906
rs11023906
SOX6
CUI: C1306620
Disease: Systolic blood pressure measurement
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: rs1156725
rs1156725
SOX6
CUI: C0428883
Disease: Diastolic blood pressure
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
SOX6
CUI: C0871470
Disease: Systolic Pressure
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: rs1156725
rs1156725
SOX6
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110

2011
dbSNP: rs12365482
rs12365482
SOX6
CUI: C0206161
Disease: Reticulocyte count (procedure)
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
SOX6
CUI: C0871470
Disease: Systolic Pressure
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
SOX6
CUI: C0001948
Disease: Alcohol consumption
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: rs12799126
rs12799126
SOX6
CUI: C0428883
Disease: Diastolic blood pressure
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: rs12800049
rs12800049
SOX6
CUI: C0005938
Disease: Bone Density
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
SOX6
CUI: C0005938
Disease: Bone Density
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
SOX6
CUI: C0871470
Disease: Systolic Pressure
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
SOX6
CUI: C0005823
Disease: Blood Pressure
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
SOX6
CUI: C0428883
Disease: Diastolic blood pressure
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: rs1455114
rs1455114
SOX6
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. 30395268

2018