Variant: rs397514668 

    present in Gene: GDF5-AS1;GDF5
    present in Chromosome: 20
    Position on Chromosome: 35434276
    Alleles of this Variant: C/T

rs397514668 in GDF5-AS1;GDF5 gene and BRACHYDACTYLY, TYPE A2 PMID 21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

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

PMID 18203755 2008 We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.