RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Disease: CORNELIA DE LANGE SYNDROME 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563687901
rs1563687901
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		TG 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019