rs397514640, PAX6

N. diseases: 4
Disease: Neurofibromatosis 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
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