Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451

2009
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 11668521

2001
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 11169766

2001
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in hereditary multiple exostoses. 11432960

2001
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095

2001
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT An R223P mutation in EXT2 gene causes hereditary multiple exostoses. 10738008

2000
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. 10429361

1999
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354

1999
dbSNP: rs764379119
rs764379119
EXT2
0.700 GeneticVariation UNIPROT Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317

1997