Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563575654
rs1563575654
EXT1
A 0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120

2009
dbSNP: rs1563575654
rs1563575654
EXT1
A 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: rs1563575654
rs1563575654
EXT1
A 0.700 CausalMutation CLINVAR Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 10679937

2000