Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315336
rs74315336
MYOC ; MYOCOS
0.010 GeneticVariation BEFREE Of 15 myocilin missense mutants tested, representing a range in severity of associated glaucoma phenotypes, 14 displayed increased secretion at 30 degrees C. The sole exception was K423E, which is associated with an unusual mode of glaucoma inheritance. 16297911

2006