Variant: rs121912634 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109798768
    Alleles of this Variant: T/C

rs121912634 in TRPV4 gene and Spondylometaphyseal dysplasia, Kozlowski type PMID 19232556 2009 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

PMID 20577006 2010 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.