Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. 24124034

2013

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 20635401

2010

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 20358602

2010

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948

2009

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 18996922

2009

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863

2007

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969

2007

dbSNP: rs587784403
rs587784403
0.800 GeneticVariation UNIPROT X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006

dbSNP: rs587784403
rs587784403
T 0.800 CausalMutation CLINVAR