MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
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: rs369841551
rs369841551 		0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 1999 2017
dbSNP: rs369841551
rs369841551 		0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 1999 2017
dbSNP: rs1057517991
rs1057517991 		0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.720 1.000 2 2003 2008
dbSNP: rs1016862
rs1016862 		1.000 0.040 18 60371844 missense variant A/C snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1057517991
rs1057517991 		0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs121913557
rs121913557 		1.000 0.080 18 60372202 missense variant C/A;T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2009 2009
dbSNP: rs121913558
rs121913558 		1.000 0.080 18 60372178 missense variant T/A snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2009 2009
dbSNP: rs121913559
rs121913559 		1.000 0.080 18 60372045 missense variant A/C;G snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs121913566
rs121913566 		0.925 0.080 18 60372165 missense variant T/C snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2000 2000
dbSNP: rs121913566
rs121913566 		0.925 0.080 18 60372165 missense variant T/C snv 4.0E-06
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1316381133
rs1316381133 		1.000 0.040 18 60371445 missense variant T/A snv 8.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs13447333
rs13447333 		0.925 0.120 18 60371808 missense variant C/T snv 1.6E-05
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs52804924
rs52804924 		0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs746906443
rs746906443 		0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs746906443
rs746906443 		0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs768916374
rs768916374 		1.000 0.080 18 60371880 missense variant T/G snv 4.0E-06
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs878909905
rs878909905 		1.000 0.080 18 60371829 stop gained C/T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121913562
rs121913562 		1.000 0.080 18 60371538 missense variant C/A;T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs121913565
rs121913565 		1.000 0.080 18 60372061 missense variant T/C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121913567
rs121913567 		1.000 0.080 18 60371694 missense variant G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs13447326
rs13447326 		1.000 0.080 18 60372117 missense variant G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs13447332
rs13447332 		1.000 0.080 18 60371857 missense variant G/A;T snv 2.0E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs13447333
rs13447333 		0.925 0.120 18 60371808 missense variant C/T snv 1.6E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922685
rs193922685 		1.000 0.080 18 60371812 missense variant A/G snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922687
rs193922687 		1.000 0.080 18 60371514 frameshift variant CA/-;CACA delins
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0