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: rs121434553
rs121434553
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs794727188
rs794727188
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1268762655
rs1268762655
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: 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: rs1268762655
rs1268762655
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs1553553646
rs1553553646
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559225974
rs1559225974
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
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: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		T 0.700 CausalMutation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
dbSNP: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225636
Disease:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026848
Disease:
Myopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs535661345
rs535661345
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763348222
rs763348222
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 18852439 2008
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 17537636 2007
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The role of mutations in COL6A3 in isolated dystonia. 26872670 2016
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: 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