Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554601504
rs1554601504
EXT1
T 0.700 CausalMutation CLINVAR Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 19839753

2009
dbSNP: rs1554601504
rs1554601504
EXT1
T 0.700 CausalMutation CLINVAR Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. 12490068

2002