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 		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 		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 		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 		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 		A 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
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: 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: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 CausalMutation CLINVAR
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: 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: 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: 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
dbSNP: rs397515470
rs397515470
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs587779769
rs587779769
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs587779770
rs587779770
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs587779771
rs587779771
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		G 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015