Variant: rs120074164 

    present in Gene: DYM
    present in Chromosome: 18
    Position on Chromosome: 49379693
    Alleles of this Variant: C/T

rs120074164 in DYM gene and SMITH-MCCORT DYSPLASIA 1 PMID 19005420 2009 Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.

PMID 18996921 2009 The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

PMID 12491225 2003 Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.