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: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016
dbSNP: rs797044950
rs797044950
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: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015
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 Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015
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
dbSNP: rs587779773
rs587779773
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
dbSNP: rs587779774
rs587779774
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: rs587779775
rs587779775
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: rs587779776
rs587779776
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs587779777
rs587779777
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: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015
dbSNP: rs797044950
rs797044950
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: rs797044950
rs797044950
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: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation 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 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
dbSNP: rs769182426
rs769182426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014