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: rs1565286228
rs1565286228
MYRF
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565977796
rs1565977796
CDK8
A 0.700 CausalMutation CLINVAR

dbSNP: rs372359356
rs372359356
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs61729366
rs61729366
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs756636036
rs756636036
ROBO4 ; LOC107984406
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs775394591
rs775394591
FREM2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs776720232
rs776720232
PGAP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs780263938
rs780263938
GLI3
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs864309713
rs864309713
FBN1
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs921444831
rs921444831
FRAS1
T 0.700 SusceptibilityMutation CLINVAR