Variant: rs760670617 

    present in Gene: SEC24D
    present in Chromosome: 4
    Position on Chromosome: 118723570
    Alleles of this Variant: G/A;C

rs760670617 in SEC24D gene and COLE-CARPENTER SYNDROME 2 PMID 25683121 2015 Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.