Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9971406
rs9971406
SOX6
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518

2018
dbSNP: rs893311
rs893311
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: rs893311
rs893311
SOX6
CUI: C0428886
Disease: Mean blood pressure
Mean 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: rs7943712
rs7943712
SOX6
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825

2018
dbSNP: rs75491173
rs75491173
SOX6
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs7482541
rs7482541
C11orf58 ; SOX6 ; LOC105376571
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs7482541
rs7482541
C11orf58 ; SOX6 ; LOC105376571
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs72871339
rs72871339
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: rs7131442
rs7131442
SOX6
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518

2018
dbSNP: rs7131442
rs7131442
SOX6
CUI: C0005938
Disease: Bone Density
Bone Density 		A 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: rs7118275
rs7118275
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: rs7118275
rs7118275
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: rs7109376
rs7109376
SOX6
CUI: C0018498
Disease: Hair Color
Hair Color 		A 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825

2018
dbSNP: rs60718933
rs60718933
SOX6
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs60718933
rs60718933
SOX6
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs55941903
rs55941903
C11orf58 ; SOX6 ; LOC105376571
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs4757391
rs4757391
SOX6
CUI: C0871470
Disease: Systolic Pressure
Systolic 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
SOX6
CUI: C0428883
Disease: Diastolic blood pressure
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
SOX6
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs4757391
rs4757391
SOX6
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs4756856
rs4756856
C11orf58 ; SOX6 ; LOC105376571
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs4756846
rs4756846
SOX6
CUI: C0029456
Disease: Osteoporosis
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
SOX6
CUI: C0028754
Disease: Obesity
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: rs3809095
rs3809095
C11orf58 ; SOX6
CUI: C0005938
Disease: Bone Density
Bone Density 		A 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: rs376898975
rs376898975
C11orf58 ; SOX6
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		TA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016