rs762267106, GSN

N. diseases: 1
Disease: Reis-Bucklers' corneal dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Reis-Bucklers' corneal dystrophy
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
0.010 GeneticVariation BEFREE Affected members of the family with Reis-Bücklers dystrophy did not carry the previously reported mutations Arg555Gln or Arg124Leu but instead carried a novel missense mutation Gly623Asp in the BIGH3 gene. 11146721 2001