Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58343600
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
CUI: C1636149
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes. 9171831 1997