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: 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: 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: rs1934951
rs1934951
0.925 0.160 10 95038791 intron variant C/T snv 0.24
CUI: C0442874
Disease: Neuropathy
Neuropathy
Nervous System Diseases 0.010 1.000 1 2014 2014
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: rs1934951
rs1934951
0.925 0.160 10 95038791 intron variant C/T snv 0.24
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular 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: C0023530
Disease: Leukopenia
Leukopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17110453
rs17110453
0.925 0.080 10 95069772 upstream gene variant A/C snv 0.11
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: rs7909236
rs7909236
1.000 0.040 10 95069673 upstream gene variant G/T snv 0.18
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1934953
rs1934953
1.000 0.040 10 95037713 intron variant C/A;T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7909236
rs7909236
1.000 0.040 10 95069673 upstream gene variant G/T snv 0.18
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs72558196
rs72558196
1.000 10 95067214 frameshift variant T/- delins 1.5E-04 4.2E-05
DRUG METABOLISM, ALTERED, CYP2C8-RELATED
0.700 0
dbSNP: rs11572080
rs11572080
0.882 0.160 10 95067273 missense variant C/A;T snv 8.3E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11572103
rs11572103
0.851 0.120 10 95058349 missense variant T/A snv 1.6E-02 4.9E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs540288649
rs540288649
1.000 0.080 10 95067259 missense variant G/A;C snv 1.6E-05; 7.2E-04
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
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: 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: 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: 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: rs774695111
rs774695111
0.882 0.040 10 95069271 missense variant C/A snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2007 2007