Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201408477
rs201408477
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation BEFREE Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity. 24890885

2015
dbSNP: rs201408477
rs201408477
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation BEFREE The novel heterozygous mutation Phe144Leu leading to the absence of melanocortin signaling was associated with early-onset obesity suggesting its pathogenic role. 18091355

2008