Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1221781038
rs1221781038
A 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555524861
rs1555524861
A 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555526796
rs1555526796
C 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555527497
rs1555527497
G 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555528357
rs1555528357
G 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555528558
rs1555528558
CT 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555529052
rs1555529052
C 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555529297
rs1555529297
T 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555529572
rs1555529572
T 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555529645
rs1555529645
A 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555529726
rs1555529726
C 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1555529734
rs1555529734
T 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs878855327
rs878855327
CG 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs886039477
rs886039477
C 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs886041791
rs886041791
A 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016

dbSNP: rs1221781038
rs1221781038
A 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555524861
rs1555524861
A 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555526796
rs1555526796
C 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555527497
rs1555527497
G 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555528357
rs1555528357
G 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555528558
rs1555528558
CT 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555529052
rs1555529052
C 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555529297
rs1555529297
T 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555529572
rs1555529572
T 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015

dbSNP: rs1555529645
rs1555529645
A 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015