Gene: EXT1 ×
Source: ALL
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 Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354

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

1998
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 Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 9521425

1998
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 Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950

1997
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: rs119103287
rs119103287
EXT1
T 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 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 Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984

2016
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: 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: rs1363815113
rs1363815113
EXT1
A 0.700 CausalMutation CLINVAR Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 26690531

2015
dbSNP: rs1554578802
rs1554578802
EXT1
C 0.700 CausalMutation CLINVAR A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. 26515642

2015
dbSNP: rs1554656288
rs1554656288
EXT1
G 0.700 CausalMutation CLINVAR Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 26690531

2015
dbSNP: rs1563872934
rs1563872934
EXT1
G 0.700 CausalMutation CLINVAR Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 26690531

2015
dbSNP: rs119103287
rs119103287
EXT1
T 0.700 CausalMutation CLINVAR Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 24532482

2014
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: rs1554578798
rs1554578798
EXT1
AG 0.700 CausalMutation CLINVAR Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. 25541963

2014
dbSNP: rs1554578798
rs1554578798
EXT1
AG 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: rs1554580147
rs1554580147
EXT1
C 0.700 CausalMutation CLINVAR Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 24532482

2014
dbSNP: rs1554601568
rs1554601568
EXT1
G 0.700 CausalMutation CLINVAR Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 24532482

2014