Variant: rs74315387

present in Gene: GDF5;GDF5-AS1 present in Chromosome: 20 Position on Chromosome: 35434216 Alleles of this Variant: C/T

rs74315387 in GDF5;GDF5-AS1 gene and Chondrodysplasia, Grebe type PMID 9288098 1997 Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.