Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852905
rs137852905
0.800 GeneticVariation UNIPROT Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. 15725249

2005

dbSNP: rs137852905
rs137852905
0.800 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707

2003

dbSNP: rs137852905
rs137852905
0.800 GeneticVariation UNIPROT An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein. 12973667

2003

dbSNP: rs137852905
rs137852905
G 0.800 CausalMutation CLINVAR