Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561222738
rs1561222738
G 0.700 GeneticVariation CLINVAR Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 17661813

2007

dbSNP: rs1561222738
rs1561222738
G 0.700 GeneticVariation CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302

2004