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: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.080 0.875 8 2005 2019
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.100 0.923 13 2006 2019
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.080 0.750 8 2006 2019
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 0.667 3 2006 2018
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 < 0.001 3 2006 2015
dbSNP: rs266729
rs266729 		0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 0.667 3 2006 2015
dbSNP: rs182052
rs182052 		0.701 0.440 3 186842993 intron variant G/A snv 0.38
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs182052
rs182052 		0.701 0.440 3 186842993 intron variant G/A snv 0.38
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		0.010 1.000 1 2006 2006
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2241767
rs2241767 		0.763 0.440 3 186853407 intron variant A/G snv 0.10
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		0.010 1.000 1 2006 2006
dbSNP: rs266729
rs266729 		0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		0.010 1.000 1 2006 2006
dbSNP: rs822396
rs822396 		0.732 0.400 3 186849088 intron variant G/A snv 0.81
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs266729
rs266729 		0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.833 6 2008 2017
dbSNP: rs266729
rs266729 		0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 0.750 4 2008 2017
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2008 2013
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2008 2013
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2008 2017
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.030 0.667 3 2008 2016
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2008 2017
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17366743
rs17366743 		0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17366743
rs17366743 		0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17366743
rs17366743 		0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008