rs397514640, PAX6

N. diseases: 4
Disease: Neurofibromatoses ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
0.010 GeneticVariation BEFREE A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. 17406642 2007