Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044819
rs886044819
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.700 GeneticVariation CLINVAR
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: rs863225458
rs863225458
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
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: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 18996922 2009
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 20358602 2010
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948 2009
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 20635401 2010
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.800 GeneticVariation UNIPROT Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. 24124034 2013
dbSNP: rs797045993
rs797045993
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs797045992
rs797045992
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs797045991
rs797045991
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs797045069
rs797045069
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
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: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 20635401 2010
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 20358602 2010
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948 2009
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 18996922 2009
dbSNP: rs782176647
rs782176647
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		0.700 GeneticVariation UNIPROT Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. 24124034 2013