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
C 0.800 CausalMutation CLINVAR Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 11391482

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
C 0.800 CausalMutation CLINVAR Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 9521425

1998
dbSNP: rs1554601483
rs1554601483
EXT1
0.800 GeneticVariation UNIPROT Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354

1999
dbSNP: rs1554601483
rs1554601483
EXT1
C 0.800 CausalMutation CLINVAR Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 9463333

1998
dbSNP: rs1057520608
rs1057520608
EXT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691623
rs1131691623
EXT1
T 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: rs1131691623
rs1131691623
EXT1
T 0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120

2009
dbSNP: rs1131691623
rs1131691623
EXT1
T 0.700 CausalMutation CLINVAR Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 10679937

2000
dbSNP: rs11546829
rs11546829
EXT1
T 0.700 CausalMutation CLINVAR

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

2009
dbSNP: rs119103287
rs119103287
EXT1
T 0.700 CausalMutation CLINVAR Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 9521425

1998
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
T 0.700 CausalMutation CLINVAR Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489

2013
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
T 0.700 CausalMutation CLINVAR Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 26239617

2015
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
T 0.700 CausalMutation CLINVAR Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 25468659

2014
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