Variant: rs121917817

present in Gene: B4GALT7 present in Chromosome: 5 Position on Chromosome: 177607445 Alleles of this Variant: C/A

rs121917817 in B4GALT7 gene and EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 PMID 10506123 1999 Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.