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: rs121434555
rs121434555
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs794727188
rs794727188
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs121434553
rs121434553
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121434553
rs121434553
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs121434555
rs121434555
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		C 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: rs2645775
rs2645775
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6719451
rs6719451
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Evaluation and application of summary statistic imputation to discover new height-associated loci. 29782485 2018
dbSNP: rs397515332
rs397515332
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		G 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
dbSNP: rs7599762
rs7599762
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0040420
Disease:
Tonometry 		0.700 GeneticVariation GWASCAT A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. 29235454 2017
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 28688748 2017
dbSNP: rs878854379
rs878854379
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs878854379
rs878854379
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
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: rs1559234260
rs1559234260
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs182976977
rs182976977
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs541928674
rs541928674
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs552651651
rs552651651
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27 		0.700 GeneticVariation UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs767517186
rs767517186
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		G 0.700 CausalMutation CLINVAR Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs777304794
rs777304794
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 CausalMutation CLINVAR Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. 26247046 2015
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: 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: rs1553553646
rs1553553646
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 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: rs397515332
rs397515332
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		G 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: 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