rs13447331, MC4R

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Obesity
CUI: C0028754
Disease: Obesity
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
Obesity
CUI: C0028754
Disease: Obesity
0.810 GeneticVariation UNIPROT
Obesity
CUI: C0028754
Disease: Obesity
0.810 GeneticVariation CLINVAR