Gene: MC4R ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913567
rs121913567
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs1267063448
rs1267063448
MC4R
0.010 GeneticVariation BEFREE Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity. 25163632

2014
dbSNP: rs13447323
rs13447323
MC4R
0.710 GeneticVariation BEFREE The correlation between the four variants (c.-24G>A, p.Thr101Ile, p.Ala259Asp and p.Ser30Phe) and the obesity phenotype, therefore, allows the conclusion that all of the four mutations cause a monogenic form of obesity. 30981838

2019
dbSNP: rs13447323
rs13447323
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. 18559663

2008
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively. 10199800

1999
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. 19091795

2009
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. 16507637

2006
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Obesity-associated mutations in the human melanocortin-4 receptor gene. 16274851

2006
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665

2003
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. 12970296

2003
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 18801902

2009
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. 19301229

2009
dbSNP: rs13447324
rs13447324
MC4R
T 0.700 CausalMutation CLINVAR Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children. 20966905

2011
dbSNP: rs13447324
rs13447324
MC4R
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: rs13447325
rs13447325
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs13447326
rs13447326
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs13447329
rs13447329
MC4R
0.010 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: rs13447331
rs13447331
MC4R
0.810 GeneticVariation UNIPROT

dbSNP: rs13447331
rs13447331
MC4R
0.810 GeneticVariation BEFREE Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives. 26047380

2015
dbSNP: rs13447331
rs13447331
MC4R
A 0.810 GeneticVariation CLINVAR

dbSNP: rs13447332
rs13447332
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs13447333
rs13447333
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs13447336
rs13447336
MC4R
0.700 GeneticVariation UNIPROT

dbSNP: rs13447337
rs13447337
MC4R
0.700 GeneticVariation UNIPROT