Variant: rs587777366 

    present in Gene: XYLT1
    present in Chromosome: 16
    Position on Chromosome: 17141299
    Alleles of this Variant: G/A

rs587777366 in XYLT1 gene and DESBUQUOIS DYSPLASIA 2 PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."

PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.