Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784020
rs587784020
NIPBL
C 0.700 CausalMutation CLINVAR Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. 24635725

2014
dbSNP: rs587784020
rs587784020
NIPBL
C 0.700 CausalMutation CLINVAR Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. 24874887

2014