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
Obesity, Morbid
CUI: C0028756
Disease: Obesity, Morbid
0.010 GeneticVariation BEFREE Overall, this study suggest that S127L may be the most frequent functional MC4R mutation leading to the severe obesity in general population and provides new insight into the functionality of population based variants of the MC4R. 24385306 2014