POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1477692170
rs1477692170
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1876214
Disease:
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017