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: 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: 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: 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: 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: 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: 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