Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28932472
rs28932472
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.030 GeneticVariation BEFREE R236G is a mutation which disrupts such a normal processing event resulting in an overall weight gain and early onset obesity. 26530524

2016
dbSNP: rs28932472
rs28932472
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.030 GeneticVariation BEFREE These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet. 16682835

2006
dbSNP: rs28932472
rs28932472
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.030 GeneticVariation BEFREE These results suggest that the R236G mutation may confer an inherited susceptibility to obesity through the production of an aberrant fusion protein that has the capacity to interfere with central melanocortin signalling. 12165561

2002