rs768608755, PAX3

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Strabismus
CUI: C0038379
Disease: Strabismus
0.010 GeneticVariation BEFREE Our results report that the c.434G-T mutation (p.R145L) in PAX3 may contribute to strabismus, expanding our understanding of the causally relevant genes for this disorder. 28861346 2017