Variant: rs74315389 

    present in Gene: GDF5;GDF5-AS1
    present in Chromosome: 20
    Position on Chromosome: 35433944
    Alleles of this Variant: C/T

rs74315389 in GDF5;GDF5-AS1 gene and SYMPHALANGISM, PROXIMAL, 1B PMID 16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

PMID 18283415 2008 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

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