Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58918655
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
CUI: C1636149
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. 9399908 1997