Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
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
dbSNP: rs1556914274
rs1556914274
HUWE1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs869320717
rs869320717
ALX4
G 0.700 CausalMutation CLINVAR