UCP3, uncoupling protein 3, 7352

N. diseases: 66; N. variants: 18
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: rs17848368
rs17848368 		1.000 11 74006298 missense variant G/A snv 1.1E-04 7.0E-05
CUI: C4016768
Disease: OBESITY, SEVERE, AND TYPE II DIABETES
OBESITY, SEVERE, AND TYPE II DIABETES 		0.700 0
dbSNP: rs2229707
rs2229707 		0.925 0.080 11 74006202 missense variant C/T snv 1.0E-02 3.9E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2229707
rs2229707 		0.925 0.080 11 74006202 missense variant C/T snv 1.0E-02 3.9E-02
CUI: C4016768
Disease: OBESITY, SEVERE, AND TYPE II DIABETES
OBESITY, SEVERE, AND TYPE II DIABETES 		0.700 0
dbSNP: rs150016118
rs150016118 		0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 0.667 3 2011 2013
dbSNP: rs150016118
rs150016118 		0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 0.333 3 2007 2014
dbSNP: rs777659543
rs777659543 		0.882 0.120 11 74006231 missense variant G/A snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 0.667 3 2011 2013
dbSNP: rs777659543
rs777659543 		0.882 0.120 11 74006231 missense variant G/A snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 0.333 3 2007 2014
dbSNP: rs1800849
rs1800849 		0.851 0.160 11 74009120 upstream gene variant G/A;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2007 2017
dbSNP: rs3781907
rs3781907 		0.925 0.120 11 74005424 intron variant A/G snv 0.30
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2018 2020
dbSNP: rs11235972
rs11235972 		1.000 0.040 11 74006029 intron variant G/A snv 0.21
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1156619081
rs1156619081 		11 74005787 missense variant T/C snv 4.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1318525693
rs1318525693 		11 74006370 missense variant C/G;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs150016118
rs150016118 		0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs150016118
rs150016118 		0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05
CUI: C4237343
Disease: Overweight or obesity
Overweight or obesity 		0.010 1.000 1 2018 2018
dbSNP: rs150016118
rs150016118 		0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs150016118
rs150016118 		0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs15763
rs15763 		1.000 0.080 11 74000432 3 prime UTR variant A/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 1.000 1 2018 2018
dbSNP: rs1626521
rs1626521 		1.000 0.080 11 74003294 intron variant G/A snv 0.32
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1685354
rs1685354 		11 74002546 intron variant A/G snv 0.30
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1726745
rs1726745 		1.000 0.080 11 74002397 intron variant T/C snv 0.57
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1800006
rs1800006 		1.000 0.080 11 74006209 synonymous variant A/G snv 0.27 0.36
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1800849
rs1800849 		0.851 0.160 11 74009120 upstream gene variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1800849
rs1800849 		0.851 0.160 11 74009120 upstream gene variant G/A;T snv
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800849
rs1800849 		0.851 0.160 11 74009120 upstream gene variant G/A;T snv
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800849
rs1800849 		0.851 0.160 11 74009120 upstream gene variant G/A;T snv
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007