Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene. 25332687

2014
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. 17628007

2007
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 15486053

2005
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR The second variant, detected in 10 obese subjects, predicted a previously identified arginine-to-glutamine substitution at codon 165, and the third variant, detected in one obese subject, predicted a novel glycine-to-serine substitution at codon 231. 15448103

2004
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. 12690102

2003
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665

2003
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 12588803

2003
dbSNP: rs747681609
rs747681609
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		T 0.700 CausalMutation CLINVAR Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. 10903343

2000