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: rs2267442
rs2267442 		22 41884357 intron variant G/A;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2018
dbSNP: rs12170228
rs12170228 		22 41851691 intron variant C/T snv 0.34
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs5996074
rs5996074 		22 41840333 intron variant G/A snv 0.74
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2013 2013
dbSNP: rs5996074
rs5996074 		22 41840333 intron variant G/A snv 0.74
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs5996074
rs5996074 		22 41840333 intron variant G/A snv 0.74
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs62240962
rs62240962 		22 41863520 intron variant C/G;T snv
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs719440
rs719440 		22 41855806 intron variant G/T snv 0.39
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs80094991
rs80094991 		22 41852285 intron variant C/T snv 2.6E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1032566999
rs1032566999 		0.925 0.080 22 41903099 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1032566999
rs1032566999 		0.925 0.080 22 41903099 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		0.010 1.000 1 2012 2012
dbSNP: rs1052717
rs1052717 		0.925 0.080 22 41885425 intron variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1052717
rs1052717 		0.925 0.080 22 41885425 intron variant A/G snv 0.62
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1052717
rs1052717 		0.925 0.080 22 41885425 intron variant A/G snv 0.62
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2228314
rs2228314 		0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2267439
rs2267439 		1.000 0.080 22 41841765 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2267439
rs2267439 		1.000 0.080 22 41841765 intron variant C/G;T snv
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2267439
rs2267439 		1.000 0.080 22 41841765 intron variant C/G;T snv
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2267443
rs2267443 		0.882 0.120 22 41891450 intron variant A/G snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018