COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906608
rs387906608
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		0.810 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs387906608
rs387906608
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		0.810 GeneticVariation BEFREE Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients. 20106987 2010
dbSNP: rs387906608
rs387906608
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		0.810 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448 2005
dbSNP: rs387906608
rs387906608
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		0.810 GeneticVariation UNIPROT Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
dbSNP: rs387906608
rs387906608
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs267606747
rs267606747
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs267606750
rs267606750
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs267606750
rs267606750
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.800 CausalMutation CLINVAR Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 20576434 2010
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299 2007
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448 2005
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs267606750
rs267606750
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.800 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832 1996
dbSNP: rs117725825
rs117725825
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs117725825
rs117725825
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606747
rs267606747
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs112153300
rs112153300
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs184395229
rs184395229
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs2070578
rs2070578
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8133436
rs8133436
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1720164
Disease:
Central corneal thickness 		T 0.700 GeneticVariation GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
dbSNP: rs878854362
rs878854362
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs1555872965
rs1555872965
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25204870 2015
dbSNP: rs1555872965
rs1555872965
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 25533456 2015