COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Natural history of pulmonary function in collagen VI-related myopathies. 24271325 2013
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. 23564457 2013
dbSNP: rs886043737
rs886043737
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877 2013
dbSNP: rs886043919
rs886043919
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877 2013
dbSNP: rs886044252
rs886044252
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877 2013
dbSNP: rs886043919
rs886043919
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 21280092 2011
dbSNP: rs1230578718
rs1230578718
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs138049094
rs138049094
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs1553553267
rs1553553267
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs1559225993
rs1559225993
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		C 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs200478135
rs200478135
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs35227432
rs35227432
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs763187844
rs763187844
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs886044252
rs886044252
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs1268762655
rs1268762655
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1553553646
rs1553553646
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs397515332
rs397515332
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		G 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		T 0.700 CausalMutation CLINVAR Natural history of Ullrich congenital muscular dystrophy. 19564581 2009
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autosomal recessive Bethlem myopathy. 19949035 2009
dbSNP: rs886043737
rs886043737
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs886044252
rs886044252
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1230578718
rs1230578718
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090 2008
dbSNP: rs1553553267
rs1553553267
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090 2008