Variant: rs121909347 

    present in Gene: GDF5;GDF5-AS1
    present in Chromosome: 20
    Position on Chromosome: 35433991
    Alleles of this Variant: C/T

rs121909347 in GDF5;GDF5-AS1 gene and MULTIPLE SYNOSTOSES SYNDROME 2 PMID 19956691 2009 Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

PMID 24098149 2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PMID 16532400 2006 GDF5 is a second locus for multiple-synostosis syndrome.

PMID 21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.