Variant: rs121908616 

    present in Gene: CHST3
    present in Chromosome: 10
    Position on Chromosome: 72007807
    Alleles of this Variant: T/C

rs121908616 in CHST3 gene and Spondyloepiphyseal dysplasia, Omani type PMID 15215498 2004 Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

PMID 18513679 2008 Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.