Variant: rs74315388 

    present in Gene: GDF5-AS1;GDF5
    present in Chromosome: 20
    Position on Chromosome: 35434102
    Alleles of this Variant: C/A;T

rs74315388 in GDF5-AS1;GDF5 gene and MULTIPLE SYNOSTOSES SYNDROME 2 PMID 19956691 2009 Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

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

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.

rs74315388 in GDF5-AS1;GDF5 gene and SYMPHALANGISM, PROXIMAL, 1B PMID 16892395 2006 A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

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.