Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913564
rs121913564
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		C 0.800 GeneticVariation CLINVAR Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. 26179253

2015
dbSNP: rs121913564
rs121913564
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		C 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
dbSNP: rs121913564
rs121913564
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		C 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
dbSNP: rs121913564
rs121913564
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		C 0.800 GeneticVariation CLINVAR Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665

2003
dbSNP: rs121913564
rs121913564
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		C 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
dbSNP: rs121913564
rs121913564
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		0.800 GeneticVariation UNIPROT