Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6726292
rs6726292
EML6
CUI: C0028754
Disease: Obesity
Obesity 		G 0.800 GeneticVariation GWASDB Common body mass index-associated variants confer risk of extreme obesity. 19553259

2009
dbSNP: rs6726292
rs6726292
EML6
CUI: C0028754
Disease: Obesity
Obesity 		G 0.800 GeneticVariation GWASCAT Common body mass index-associated variants confer risk of extreme obesity. 19553259

2009
dbSNP: rs10496035
rs10496035
EML6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs13394146
rs13394146
EML6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs17046310
rs17046310
EML6
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell 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: rs17046344
rs17046344
EML6
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518

2018
dbSNP: rs17046344
rs17046344
EML6
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs17046344
rs17046344
EML6
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: rs17046380
rs17046380
EML6
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		T 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518

2018
dbSNP: rs200476039
rs200476039
EML6
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs200476039
rs200476039
EML6
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs200476039
rs200476039
EML6
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2580764
rs2580764
EML6
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs4625954
rs4625954
EML6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs72806698
rs72806698
EML6
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs72806698
rs72806698
EML6
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		T 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518

2018
dbSNP: rs72806698
rs72806698
EML6
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518

2018
dbSNP: rs72806698
rs72806698
EML6
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs72806698
rs72806698
EML6
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: rs72917514
rs72917514
EML6
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs72917514
rs72917514
EML6
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE The present study was conducted to evaluate whether the TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3'-UTR are associated with clear cell renal cell carcinoma (ccRCC). 28687970

2018
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE We therefore conclude that the CAA insertion/deletion polymorphism (rs34917480) contributes to non-small cell lung cancer risk in Chinese population. 25040983

2014
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 GeneticVariation BEFREE This pilot case-control study was conducted to test the hypothesis that the TATC (rs71682890) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3'-UTR are associated with the susceptibility to uterine leiomyoma (UL). 23479081

2013