Gene: MC4R ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13447331
rs13447331
MC4R
0.810 GeneticVariation UNIPROT

dbSNP: rs13447331
rs13447331
MC4R
A 0.810 GeneticVariation CLINVAR

dbSNP: rs187152753
rs187152753
MC4R
0.810 GeneticVariation UNIPROT

dbSNP: rs187152753
rs187152753
MC4R
T 0.810 CausalMutation CLINVAR

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 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665

2003
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: rs121913562
rs121913562
MC4R
0.800 GeneticVariation UNIPROT

dbSNP: rs121913562
rs121913562
MC4R
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913563
rs121913563
MC4R
0.800 GeneticVariation UNIPROT

dbSNP: rs121913563
rs121913563
MC4R
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913564
rs121913564
MC4R
0.800 GeneticVariation UNIPROT

dbSNP: rs1057517991
rs1057517991
MC4R
0.720 GeneticVariation UNIPROT

dbSNP: rs121913557
rs121913557
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs121913558
rs121913558
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs121913559
rs121913559
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs121913566
rs121913566
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs13447323
rs13447323
MC4R
0.710 GeneticVariation UNIPROT

dbSNP: rs766665118
rs766665118
MC4R
A 0.710 CausalMutation CLINVAR

dbSNP: rs79783591
rs79783591
MC4R
T 0.710 CausalMutation CLINVAR

dbSNP: rs747681609
rs747681609
MC4R
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: 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 Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 18801902

2009