rs1563659474, EXT1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Multiple Exostoses
CUI: C0015306
Disease: Hereditary Multiple Exostoses
0.700 CausalMutation CLINVAR Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. 18165274 2008