ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117984432
rs117984432
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0007137
Disease:
Squamous cell carcinoma 		C 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs140088599
rs140088599
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3114908
rs3114908
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0406208
Disease:
Suntan 		T 0.700 GeneticVariation GWASCAT Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. 29739929 2018
dbSNP: rs55637757
rs55637757
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0406208
Disease:
Suntan 		T 0.700 GeneticVariation GWASCAT Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. 29739929 2018
dbSNP: rs1221781038
rs1221781038
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555524861
rs1555524861
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555526796
rs1555526796
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555527497
rs1555527497
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528357
rs1555528357
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528357
rs1555528357
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529052
rs1555529052
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529297
rs1555529297
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529297
rs1555529297
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529645
rs1555529645
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529726
rs1555529726
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529734
rs1555529734
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs878855327
rs878855327
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs878855327
rs878855327
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs886039477
rs886039477
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs886039477
rs886039477
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017