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: rs281875331
rs281875331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		G 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875332
rs281875332
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875333
rs281875333
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875333
rs281875333
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875331
rs281875331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875332
rs281875332
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875333
rs281875333
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875334
rs281875334
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		0.800 GeneticVariation UNIPROT A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		A 0.800 CausalMutation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		A 0.800 CausalMutation CLINVAR Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 12325076 2002
dbSNP: rs281875331
rs281875331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.800 CausalMutation CLINVAR
dbSNP: rs281875332
rs281875332
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.800 CausalMutation CLINVAR
dbSNP: rs281875334
rs281875334
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.800 CausalMutation CLINVAR
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: 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: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation 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 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs797044950
rs797044950
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: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation 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 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016