Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225459
rs863225459
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		TGGCC 0.700 CausalMutation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs122454123
rs122454123
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
dbSNP: rs122454123
rs122454123
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1556890815
rs1556890815
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
dbSNP: rs1556890815
rs1556890815
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
dbSNP: rs1556890815
rs1556890815
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948 2009
dbSNP: rs587784403
rs587784403
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587784408
rs587784408
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs587784416
rs587784416
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs587784420
rs587784420
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. 23106691 2012
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. 28102598 2017
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 19842212 2010
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. 22106055 2012
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 20635401 2010
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 19842212 2010
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007