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: 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: rs11872992
rs11872992 		0.851 0.160 18 60373354 intron variant G/A snv 0.12
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs11872992
rs11872992 		0.851 0.160 18 60373354 intron variant G/A snv 0.12
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
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: rs11872992
rs11872992 		0.851 0.160 18 60373354 intron variant G/A snv 0.12
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2007 2007
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: rs34974495
rs34974495 		18 60373556 intron variant G/A snv 1.5E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs8087522
rs8087522 		0.925 0.120 18 60373245 intron variant G/A snv 0.39
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: rs756232889
rs756232889 		1.000 0.080 18 60371512 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
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: 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: 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: rs369841551
rs369841551 		0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
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: 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: 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