rs121913564, MC4R

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Obesity
CUI: C0028754
Disease: Obesity
0.800 GeneticVariation CLINVAR Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. 26179253 2015
Obesity
CUI: C0028754
Disease: Obesity
0.800 GeneticVariation CLINVAR High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families. 22463805 2012
Obesity
CUI: C0028754
Disease: Obesity
0.800 GeneticVariation CLINVAR We have studied the intracellular localization of four obesity-linked MC4R variants, P78L, R165W, I316S, and I317T, in immortalized neurons. 20631012 2010
Obesity
CUI: C0028754
Disease: Obesity
0.800 GeneticVariation CLINVAR Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 12588803 2003
Obesity
CUI: C0028754
Disease: Obesity
0.800 GeneticVariation CLINVAR Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665 2003
Obesity
CUI: C0028754
Disease: Obesity
0.800 GeneticVariation UNIPROT
Obesity, Morbid
CUI: C0028756
Disease: Obesity, Morbid
0.010 GeneticVariation BEFREE Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects (3.2%), were associated with severe obesity, hyperphagia, hyperleptinemia and hyperinsulinemia. 22463805 2012
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.010 GeneticVariation BEFREE Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects (3.2%), were associated with severe obesity, hyperphagia, hyperleptinemia and hyperinsulinemia. 22463805 2012