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: 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: 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: 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: 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: rs13447324
rs13447324 		1.000 0.080 18 60372245 stop gained G/T snv 6.8E-05 1.3E-04
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
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: 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: rs770293321
rs770293321 		1.000 0.080 18 60372286 stop gained GT/- delins 1.2E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
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