Variant: rs120074163 

    present in Gene: DYM
    present in Chromosome: 18
    Position on Chromosome: 49257065
    Alleles of this Variant: T/A

rs120074163 in DYM gene and Dyggve-Melchior-Clausen syndrome PMID 12554689 2003 Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

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

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