Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783933
rs587783933
NIPBL
A 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889

2013
dbSNP: rs587783933
rs587783933
NIPBL
T 0.700 CausalMutation CLINVAR