Gene: MC4R ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs187152753
rs187152753
MC4R
0.810 GeneticVariation BEFREE (1) A novel MC4R non-synonymous mutation (S136F) was detected in a 2.3 year old girl with extreme obesity (BMI 33.2 kg/m(2), >99th centile); (2) a previously described non-synonymous mutation (V253I) was identified in an obese mother (BMI 28.1 kg/m(2)) who did not transmit this mutation to her extremely obese son; (3) two known polymorphisms (V103I and I251L) were also identified; and (4) one obese mother was carrier of a silent variation (c.594C>T; I198). 17286227

2007
dbSNP: rs13447331
rs13447331
MC4R
0.810 GeneticVariation UNIPROT

dbSNP: rs13447331
rs13447331
MC4R
A 0.810 GeneticVariation CLINVAR

dbSNP: rs187152753
rs187152753
MC4R
T 0.810 CausalMutation CLINVAR

dbSNP: rs187152753
rs187152753
MC4R
0.810 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 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
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
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 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665

2003
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
0.800 GeneticVariation UNIPROT

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: 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 UNIPROT

dbSNP: rs79783591
rs79783591
MC4R
0.710 GeneticVariation BEFREE The MC4R p.Ile269Asn mutation may have emerged as a founder mutation in native Mexicans and is associated with childhood and adult obesity in the modern Mexican population. 31841602

2020
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: rs766665118
rs766665118
MC4R
0.710 GeneticVariation BEFREE Additionally, we also report a monogenic case of obesity carrying the pathogenic mutation 449C>T (Thr150Ile) in MC4R gene with no apparent alterations in eating behavior scores. 26588347

2016
dbSNP: rs766665118
rs766665118
MC4R
0.710 GeneticVariation BEFREE Additionally, we also report a monogenic case of obesity carrying the pathogenic mutation 449C>T (Thr150Ile) in MC4R gene with no apparent alterations in eating behavior scores. 26588347

2016
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: 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