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: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0006625
Disease: Cachexia
Cachexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0003123
Disease: Anorexia
Anorexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		0.010 < 0.001 1 2008 2008
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: 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: 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: 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: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2010 2010
dbSNP: rs13447324
rs13447324 		1.000 0.080 18 60372245 stop gained G/T snv 6.8E-05 1.3E-04
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 1.000 11 1999 2011
dbSNP: rs11872992
rs11872992 		0.851 0.160 18 60373354 intron variant G/A snv 0.12
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
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: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs375095163
rs375095163 		0.925 0.120 18 60371428 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs375095163
rs375095163 		0.925 0.120 18 60371428 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs52820871
rs52820871 		0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03
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 2011 2011
dbSNP: rs8087522
rs8087522 		0.925 0.120 18 60373245 intron variant G/A snv 0.39
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
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