rs1561207924, NIPBL

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019