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: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.050 0.800 5 2007 2015
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 1.000 5 2005 2016
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2008 2016
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2010 2017
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2010 2017
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.700 10 1998 2018
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2014 2018
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C4237343
Disease: Overweight or obesity
Overweight or obesity 		0.010 1.000 1 2018 2018
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs659366
rs659366 		0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs660339
rs660339 		0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019