POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency ×
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: C0342471
Disease:
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. 26079780 2015