Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554580162
rs1554580162
EXT1
C 0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120

2009
dbSNP: rs1554580162
rs1554580162
EXT1
C 0.700 CausalMutation CLINVAR Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. 15586175

2005
dbSNP: rs1554580162
rs1554580162
EXT1
C 0.700 CausalMutation CLINVAR Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 11391482

2001
dbSNP: rs1554580162
rs1554580162
EXT1
C 0.700 CausalMutation CLINVAR Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 10679937

2000