Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907212
rs387907212
RAD21
0.800 GeneticVariation UNIPROT RAD21 mutations cause a human cohesinopathy. 22633399

2012
dbSNP: rs387907212
rs387907212
RAD21
C 0.800 CausalMutation CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399

2012
dbSNP: rs387907213
rs387907213
RAD21 ; UTP23
G 0.800 CausalMutation CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399

2012
dbSNP: rs387907213
rs387907213
RAD21 ; UTP23
0.800 GeneticVariation UNIPROT RAD21 mutations cause a human cohesinopathy. 22633399

2012
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: rs1563687901
rs1563687901
RAD21
TG 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1563689416
rs1563689416
RAD21
T 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1554612093
rs1554612093
RAD21
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554612096
rs1554612096
RAD21
CAG 0.700 CausalMutation CLINVAR

dbSNP: rs797045907
rs797045907
RAD21
G 0.700 CausalMutation CLINVAR

dbSNP: rs797045908
rs797045908
RAD21
CT 0.700 CausalMutation CLINVAR

dbSNP: rs797045909
rs797045909
RAD21
GCT 0.700 CausalMutation CLINVAR

dbSNP: rs863224910
rs863224910
RAD21 ; UTP23
G 0.700 GeneticVariation CLINVAR