Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs866740147
rs866740147
NIPBL
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057521921
rs1057521921
SMC1A
0.010 GeneticVariation BEFREE Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354

2015
dbSNP: rs1344806616
rs1344806616
PDS5B
0.010 GeneticVariation BEFREE We further identified a functional missense mutation (R1292Q) in the PDS5B DNA-binding domain in a familial case of CdLS, in which affected individuals also develop megacolon. 19412548

2009