Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074165
rs120074165
DYM
0.800 GeneticVariation UNIPROT Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene. 19005420

2009
dbSNP: rs120074165
rs120074165
DYM
0.800 GeneticVariation UNIPROT The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 18996921

2009
dbSNP: rs120074165
rs120074165
DYM
0.800 GeneticVariation UNIPROT Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 12491225

2003
dbSNP: rs120074165
rs120074165
DYM
G 0.800 CausalMutation CLINVAR

dbSNP: rs120074164
rs120074164
DYM
0.700 GeneticVariation UNIPROT The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 18996921

2009
dbSNP: rs120074164
rs120074164
DYM
0.700 GeneticVariation UNIPROT Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene. 19005420

2009
dbSNP: rs120074164
rs120074164
DYM
0.700 GeneticVariation UNIPROT Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 12491225

2003
dbSNP: rs775414124
rs775414124
DYM
C 0.700 CausalMutation CLINVAR