POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149540566
rs149540566
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE We screened the POMC gene in 538 patients with severe, early-onset obesity and identified five unrelated probands who were heterozygous for a rare missense variant in the region encoding beta-MSH, Tyr221Cys. 16459314 2006