ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1166509821
rs1166509821
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1166509821
rs1166509821
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554329068
rs1554329068
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554329113
rs1554329113
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554329269
rs1554329269
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554329331
rs1554329331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554329516
rs1554329516
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554329523
rs1554329523
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554329546
rs1554329546
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of a second case of 7p22.1 microduplication. 22495914 2012
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928 2013
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015
dbSNP: rs1554329646
rs1554329646
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1562720119
rs1562720119
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs2098226
rs2098226
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1623258
Disease:
Electrocardiography 		A 0.700 GeneticVariation GWASCAT Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study). 29622589 2018
dbSNP: rs2908425
rs2908425
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs2966450
rs2966450
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs368352689
rs368352689
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.700 CausalMutation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999