Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554601483
rs1554601483
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 GeneticVariation UNIPROT Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 11169766

2001
dbSNP: rs1554601483
rs1554601483
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 GeneticVariation UNIPROT Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354

1999
dbSNP: rs1554601483
rs1554601483
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		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
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 GeneticVariation UNIPROT Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 9521425

1998
dbSNP: rs1554601483
rs1554601483
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 GeneticVariation UNIPROT Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 9463333

1998
dbSNP: rs1554601483
rs1554601483
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 GeneticVariation UNIPROT Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317

1997
dbSNP: rs1554601483
rs1554601483
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 GeneticVariation UNIPROT Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950

1997