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: rs965705838
rs965705838
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1876214
Disease:
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017