Variant: rs121912632 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109792407
    Alleles of this Variant: C/T

rs121912632 in TRPV4 gene and Brachyolmia Type 3 PMID 18587396 2008 Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.