Variant: rs397514519 

    present in Gene: GDF5;GDF5-AS1
    present in Chromosome: 20
    Position on Chromosome: 35434220
    Alleles of this Variant: G/A

rs397514519 in GDF5;GDF5-AS1 gene and BRACHYDACTYLY, TYPE A1, C PMID 24098149 2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PMID 20683927 2010 Mutations in GDF5 presenting as semidominant brachydactyly A1.