POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Obesity ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772977552
rs772977552
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE (1) A novel MC4R non-synonymous mutation (S136F) was detected in a 2.3 year old girl with extreme obesity (BMI 33.2 kg/m(2), >99th centile); (2) a previously described non-synonymous mutation (V253I) was identified in an obese mother (BMI 28.1 kg/m(2)) who did not transmit this mutation to her extremely obese son; (3) two known polymorphisms (V103I and I251L) were also identified; and (4) one obese mother was carrier of a silent variation (c.594C>T; I198). 17286227 2007