UCP2, uncoupling protein 2, 7351

N. diseases: 235; N. variants: 5
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: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C1843898
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder) 		0.700 0
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0271638
Disease: Type 2 diabetes mellitus in obese
Type 2 diabetes mellitus in obese 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 1997 1997
dbSNP: rs200027152
rs200027152 		0.925 0.120 11 73975612 missense variant C/T snv 8.0E-05 4.9E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 1998 1998
dbSNP: rs200027152
rs200027152 		0.925 0.120 11 73975612 missense variant C/T snv 8.0E-05 4.9E-05
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 1998 1998
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 1998 2002
dbSNP: rs649446
rs649446 		1.000 0.040 11 73984800 non coding transcript exon variant C/T snv 0.22
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C1960636
Disease: Dysglycemia
Dysglycemia 		0.010 1.000 1 2013 2013
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs778724159
rs778724159 		0.925 0.080 11 73978066 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs778724159
rs778724159 		0.925 0.080 11 73978066 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.080 0.625 8 1997 2014