POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Congenital adrenal hyperplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1351141519
rs1351141519
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0001627
Disease:
Congenital adrenal hyperplasia 		0.010 GeneticVariation BEFREE 3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation. 26079780 2015