Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122454122
rs122454122
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: rs122454123
rs122454123
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: rs1556890815
rs1556890815
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: rs387906702
rs387906702
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: rs587784403
rs587784403
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: rs587784408
rs587784408
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: rs587784409
rs587784409
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: rs587784416
rs587784416
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: rs587784418
rs587784418
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: rs587784420
rs587784420
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 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR 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 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995