Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563872934
rs1563872934
G 0.700 CausalMutation CLINVAR Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 26690531

2015

dbSNP: rs1563872934
rs1563872934
G 0.700 CausalMutation CLINVAR Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 24532482

2014

dbSNP: rs1563872934
rs1563872934
G 0.700 CausalMutation CLINVAR Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095

2001