Variant: rs398122361 

    present in Gene: DSE
    present in Chromosome: 6
    Position on Chromosome: 116431086
    Alleles of this Variant: C/T

rs398122361 in DSE gene and EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 PMID 23704329 2013 Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.