rs541270955, TGFBI

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
0.010 GeneticVariation BEFREE The detection of the D123H mutation in three unaffected family members indicates that it has low penetrance for GCD. 12782158 2003