Variant: rs387906985 

    present in Gene: CHSY1
    present in Chromosome: 15
    Position on Chromosome: 101178181
    Alleles of this Variant: G/C

rs387906985 in CHSY1 gene and Temtamy preaxial brachydactyly syndrome PMID 21129727 2010 Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

PMID 21129728 2010 Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.