Variant: rs121434599 

    present in Gene: PTH1R
    present in Chromosome: 3
    Position on Chromosome: 46897936
    Alleles of this Variant: C/T

rs121434599 in PTH1R gene and Chondrodysplasia, blomstrand type PMID 9745456 1998 A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.