Gene: MC4R ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517991
rs1057517991
MC4R
0.720 GeneticVariation UNIPROT

dbSNP: rs1057517991
rs1057517991
MC4R
0.720 GeneticVariation BEFREE By screening patients with severe early onset obesity for mutations within the melanocortin 4 receptor (MC4R) gene, we have identified a missense mutation (C271R) that occurs homozygous in two siblings with obesity. 14504270

2003
dbSNP: rs1057517991
rs1057517991
MC4R
0.720 GeneticVariation BEFREE We conclude that in our sample, the MC4R (C271R) mutation causing obesity, is in association with ADHD. 18777518

2008
dbSNP: rs11872992
rs11872992
MC4R
0.010 GeneticVariation BEFREE In addition, we could also detect an association between rs11872992 and complex obesity (odds ratio=0.74, 95% CI 0.57-0.98, P=0.03). 21303735

2011
dbSNP: rs121913557
rs121913557
MC4R
0.710 GeneticVariation BEFREE We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity. 19184404

2009
dbSNP: rs121913557
rs121913557
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs121913558
rs121913558
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs121913558
rs121913558
MC4R
0.710 GeneticVariation BEFREE We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity. 19184404

2009
dbSNP: rs121913559
rs121913559
MC4R
0.710 GeneticVariation BEFREE We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects. 16030156

2005
dbSNP: rs121913559
rs121913559
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs121913560
rs121913560
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs121913561
rs121913561
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs121913562
rs121913562
MC4R
0.800 GeneticVariation UNIPROT

dbSNP: rs121913562
rs121913562
MC4R
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913563
rs121913563
MC4R
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913563
rs121913563
MC4R
0.800 GeneticVariation UNIPROT

dbSNP: rs121913564
rs121913564
MC4R
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
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
0.800 GeneticVariation UNIPROT

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

2003
dbSNP: rs121913564
rs121913564
MC4R
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: rs121913565
rs121913565
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs121913566
rs121913566
MC4R
0.710 GeneticVariation BEFREE In transient transfection assays, the N62S mutant receptor showed a responsiveness to alphaMSH that was intermediate between the wild-type receptor and mutant receptors carrying nonsense and missense mutations associated with dominantly inherited obesity. 10903343

2000
dbSNP: rs121913566
rs121913566
MC4R
0.710 GeneticVariation UNIPROT