Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11572169
rs11572169 		10 95040017 intron variant T/C snv 8.0E-02
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1934951
rs1934951 		0.925 0.160 10 95038791 intron variant C/T snv 0.24
CUI: C0029445
Disease: Bone necrosis
Bone necrosis 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1934953
rs1934953 		1.000 0.040 10 95037713 intron variant C/A;T snv
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2275620
rs2275620 		0.925 0.120 10 95042841 intron variant A/C;T snv 0.58
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2275620
rs2275620 		0.925 0.120 10 95042841 intron variant A/C;T snv 0.58
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs72558196
rs72558196 		1.000 10 95067214 frameshift variant T/- delins 1.5E-04 4.2E-05
CUI: C4693948
Disease: DRUG METABOLISM, ALTERED, CYP2C8-RELATED
DRUG METABOLISM, ALTERED, CYP2C8-RELATED 		0.700 0
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0266807
Disease: Acute gastrointestinal hemorrhage
Acute gastrointestinal hemorrhage 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10509681
rs10509681 		0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1058930
rs1058930 		0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1058930
rs1058930 		0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1058930
rs1058930 		0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1058930
rs1058930 		0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1058932
rs1058932 		1.000 0.080 10 95037104 3 prime UTR variant G/A snv 0.22 0.24
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11572080
rs11572080 		0.882 0.160 10 95067273 missense variant C/A;T snv 8.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs11572080
rs11572080 		0.882 0.160 10 95067273 missense variant C/A;T snv 8.3E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11572080
rs11572080 		0.882 0.160 10 95067273 missense variant C/A;T snv 8.3E-02
CUI: C0266807
Disease: Acute gastrointestinal hemorrhage
Acute gastrointestinal hemorrhage 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11572080
rs11572080 		0.882 0.160 10 95067273 missense variant C/A;T snv 8.3E-02
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11572103
rs11572103 		0.851 0.120 10 95058349 missense variant T/A snv 1.6E-02 4.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs11572103
rs11572103 		0.851 0.120 10 95058349 missense variant T/A snv 1.6E-02 4.9E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2007 2007