rs1563687901, RAD21

N. diseases: 1
Disease: CORNELIA DE LANGE SYNDROME 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CORNELIA DE LANGE SYNDROME 4
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019