Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521921
rs1057521921
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0270972
Disease:
Cornelia De Lange Syndrome 		0.010 GeneticVariation BEFREE Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354 2015
dbSNP: rs1569356550
rs1569356550
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1569356555
rs1569356555
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		GT 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1569358628
rs1569358628
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1569359048
rs1569359048
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		G 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1569359535
rs1569359535
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		A 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1569359540
rs1569359540
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		A 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs727503773
rs727503773
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs797045069
rs797045069
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs863225458
rs863225458
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
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 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: C0000772
Disease:
Multiple congenital anomalies 		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 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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation 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: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		G 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: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		G 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: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease:
Movement Disorders 		G 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: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		G 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 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016