Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0235833
Disease:
Congenital diaphragmatic hernia
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019