Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 11169766

2001
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950

1997
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 9521425

1998
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. 10441575

1999
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 9463333

1998
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317

1997
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354

1999
dbSNP: rs188859975
rs188859975
EXT1
0.700 GeneticVariation UNIPROT

dbSNP: rs119103287
rs119103287
EXT1
A 0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120

2009
dbSNP: rs119103287
rs119103287
EXT1
A 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
dbSNP: rs119103287
rs119103287
EXT1
A 0.700 CausalMutation CLINVAR Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950

1997
dbSNP: rs119103287
rs119103287
EXT1
A 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: rs119103287
rs119103287
EXT1
A 0.700 CausalMutation CLINVAR Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984

2016
dbSNP: rs119103287
rs119103287
EXT1
A 0.700 CausalMutation CLINVAR Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 18330718

2009
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 18330718

2009
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Biochemical analyses indicate that EXT1 and EXT2 can associate and form homo/hetero-oligomers in vivo with or without HME-linked mutations, EXT1 (R340C) and EXT2 (D227N), when exogenously expressed in COS-7 cells. 10679296

2000
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950

1997
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 9521425

1998
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317

1997
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 26239617

2015
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984

2016
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. 10639137

2000
dbSNP: rs119103290
rs119103290
EXT1
A 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
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120

2009
dbSNP: rs119103290
rs119103290
EXT1
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in hereditary multiple exostoses. 11432960

2001