POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Deficiency of reductase ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs913377707
rs913377707
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1291316
Disease:
Deficiency of reductase 		0.010 GeneticVariation BEFREE The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. 18717241 2008