Variant: rs1131691623 

    present in Gene: EXT1
    present in Chromosome: 8
    Position on Chromosome: 117804894
    Alleles of this Variant: C/G;T

rs1131691623 in EXT1 gene and Hereditary Multiple Exostoses PMID 11391482 2001 Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

PMID 10679937 2000 Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

PMID 19810120 2009 Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).