rs369865672, VSX1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polymorphous corneal dystrophy
CUI: C0339284
Disease: Polymorphous corneal dystrophy
0.010 GeneticVariation BEFREE Two pathogenic changes were detected; a novel change c.173C>T (p.Pro58Leu) was found in a patient with PPCD, predicted to be pathogenic, and not seen in 200 ethnically matched control alleles. 23592923 2013