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: 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
dbSNP: rs61741819
rs61741819 		1.000 0.080 18 60371756 synonymous variant G/A snv 3.2E-03 1.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 1.000 13 1999 2014
dbSNP: rs747681609
rs747681609 		1.000 0.080 18 60371856 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 1.000 8 2000 2014
dbSNP: rs121913564
rs121913564 		0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 5 2003 2015
dbSNP: rs52820871
rs52820871 		0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.040 0.500 4 2007 2015
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: rs121913564
rs121913564 		0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121913564
rs121913564 		0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
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: rs1267063448
rs1267063448 		1.000 0.080 18 60372131 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
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: rs13447323
rs13447323 		1.000 0.080 18 60372261 missense variant G/A snv 9.5E-05 7.0E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2019 2019
dbSNP: rs13447329
rs13447329 		1.000 0.080 18 60372015 missense variant G/A snv 9.0E-04 6.4E-04
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs13447331
rs13447331 		0.925 0.080 18 60371970 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.810 1.000 1 2015 2015
dbSNP: rs13447331
rs13447331 		0.925 0.080 18 60371970 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
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: rs1380965800
rs1380965800 		1.000 0.080 18 60371943 missense variant G/A snv 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs138281308
rs138281308 		1.000 0.080 18 60371744 missense variant G/T snv 6.9E-04 3.0E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005