Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039358
rs886039358
EXT2
T 0.700 CausalMutation CLINVAR Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984

2016
dbSNP: rs886039358
rs886039358
EXT2
T 0.700 CausalMutation CLINVAR 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 23262345

2013
dbSNP: rs886039358
rs886039358
EXT2
T 0.700 CausalMutation CLINVAR Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489

2013
dbSNP: rs886039358
rs886039358
EXT2
T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 23629877

2013
dbSNP: rs886039358
rs886039358
EXT2
T 0.700 CausalMutation CLINVAR Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. 10713884

2000