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: 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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
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: 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: 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: 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: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2013 2013
dbSNP: rs372794914
rs372794914 		0.925 0.080 18 60372319 missense variant T/C snv 6.0E-05 2.8E-05
CUI: C0006370
Disease: Bulimia
Bulimia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs752031670
rs752031670 		0.925 0.080 18 60371752 missense variant T/C snv 2.4E-05 1.4E-05
CUI: C0006370
Disease: Bulimia
Bulimia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs52820871
rs52820871 		0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		Mental Disorders 0.010 < 0.001 1 2015 2015
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: C1391732
Disease: Cancer cachexia
Cancer cachexia 		0.010 < 0.001 1 2008 2008
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: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs52820871
rs52820871 		0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs52820871
rs52820871 		0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
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: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2007 2007
dbSNP: rs52820871
rs52820871 		0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		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: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs2229616
rs2229616 		0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs942758928
rs942758928 		1.000 0.080 18 60371854 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
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