Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13447331
rs13447331
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
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: rs1057517991
rs1057517991
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
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: rs79783591
rs79783591
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
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
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
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
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
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
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: rs121913566
rs121913566
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: rs2229616
rs2229616
0.100 GeneticVariation BEFREE The influence of rs2229616 (MC4R) on BMI and obesity has been confirmed repeatedly and insight into the underlying mechanism provided. 24518831

2014

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE The most common Melanocortin-4 receptor (MC4R) missense variant Val103Ileu (rs2229616) is related to obesity. 20530052

2011

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE The objective of this study was to examine the Val103Ile polymorphism of MC4R in a population of Vojvodina and its association with obesity. 19283510

2010

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE In conclusion, this study confirmed and extended the previous findings, suggesting the MC4R V103I polymorphism is negatively associated with human obesity. 19696756

2010

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE It further establishes that the association of the MC4R V103I with obesity and related phenotypes is genuine. 18239646

2008

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE In humans, MC4R mutations that lead to an impaired receptor function are associated with obesity; in contrast, the most frequent polymorphism (Val103Ile, rs2229616; heterozygote frequency approximately 2%) was shown to be negatively associated with obesity. 18377640

2008

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE This study confirms that the V103I polymorphism protects against human obesity at a population level. 17356525

2007

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE Taken together, gain-of-function mutations I251L and V103I may be responsible for a preventive fraction of obesity of 2%, which mirrors the prevalence of monogenic obesity due to MC4R haploinsufficiency. 17519222

2007

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE To investigate the effects of variation in the leptin [LEP (19A>G)] and melanocortin-4 receptor [MC4R (V103I)] genes on obesity-related traits in 13 405 African-American (AA) and white participants from the Atherosclerosis Risk in Communities (ARIC) Study. 17587397

2007

dbSNP: rs2229616
rs2229616
0.100 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: rs2229616
rs2229616
0.100 GeneticVariation BEFREE Our study confirms previous findings of a meta-analysis that the relatively infrequent G/A genotype of the V103I MC4R polymorphism is negatively associated with above average weight and obesity in population based original data of 7937 participants, and extends previous findings by showing for the first time a significantly lower BMI in individuals carrying the infrequent allele of this MC4R variant. 15805150

2005

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE In our study, we addressed the hypothesis that a G-->A substitution at codon 103 (Val-103Ile) of the MC4R gene influences abdominal obesity, insulin, glucose, and lipid metabolism as well as circulating hormones, including salivary cortisol. 11692184

2001

dbSNP: rs2229616
rs2229616
0.100 GeneticVariation BEFREE These results suggest that mutations including V103I in the MC4R gene are not a major cause of obesity or diabetes in Japanese. 11246450

1999