Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852903
rs137852903
ANTXR2
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: rs137852903
rs137852903
ANTXR2
0.800 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707

2003
dbSNP: rs137852903
rs137852903
ANTXR2
0.800 GeneticVariation UNIPROT The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. 12973667

2003
dbSNP: rs137852903
rs137852903
ANTXR2
C 0.800 CausalMutation CLINVAR