Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554578802
rs1554578802
EXT1
C 0.700 CausalMutation CLINVAR A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. 26515642

2015
dbSNP: rs1554578802
rs1554578802
EXT1
C 0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120

2009
dbSNP: rs1554578802
rs1554578802
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: rs1554578802
rs1554578802
EXT1
C 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
dbSNP: rs1554578802
rs1554578802
EXT1
C 0.700 CausalMutation CLINVAR Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 10679937

2000