Variant: rs121909349 

    present in Gene: GDF5-AS1;GDF5
    present in Chromosome: 20
    Position on Chromosome: 35434297
    Alleles of this Variant: A/C

rs121909349 in GDF5-AS1;GDF5 gene and SYMPHALANGISM, PROXIMAL, 1B PMID 18283415 2008 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

PMID 16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

PMID 16892395 2006 A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.