Gene: ANKRD11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1221781038
rs1221781038
ANKRD11
A 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1221781038
rs1221781038
ANKRD11
A 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555524861
rs1555524861
ANKRD11
A 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555524861
rs1555524861
ANKRD11
A 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555526796
rs1555526796
ANKRD11
C 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555526796
rs1555526796
ANKRD11
C 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555527497
rs1555527497
ANKRD11
G 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555527497
rs1555527497
ANKRD11
G 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555529052
rs1555529052
ANKRD11
C 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555529052
rs1555529052
ANKRD11
C 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555529645
rs1555529645
ANKRD11
A 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555529645
rs1555529645
ANKRD11
A 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555529726
rs1555529726
ANKRD11
C 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs1555529726
rs1555529726
ANKRD11
C 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555529734
rs1555529734
ANKRD11
T 0.700 CausalMutation CLINVAR Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. 15184363

2004
dbSNP: rs1555529734
rs1555529734
ANKRD11
T 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR KBG syndrome in a cohort of Italian patients. 15523620

2004