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: rs112638391
rs112638391
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
0.700 GeneticVariation UNIPROT
dbSNP: rs113155945
rs113155945
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Survival analysis showed that the collagen type VI alpha 3 chain (<i>COL6A3</i>) rs111231885 and <i>COL6A3</i>-rs113155945 and <i>COL6A3</i> block 4 CC haplotypes with TP53 negative status may have protective effects in HBV-related HCC patients after hepatectomy. 29760565 2018
dbSNP: rs114284669
rs114284669
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.700 GeneticVariation UNIPROT
dbSNP: rs115510139
rs115510139
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE Stratified analysis was performed by gender, age, alcohol drinking, BMI, TNM stage and lymph node metastasis, the results showed that rs7436, rs115510139 and rs6720283 were significantly associated with the risk of EC in different groups (all p < 0.05). 31425922 2019
dbSNP: rs115510139
rs115510139
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE In our results, we observed that rs115510139 was linked to an increased risk of lung cancer in the codominant (adjusted OR = 1.61, 95%CI: 1.14-2.27, p = 0.007), dominant (adjusted OR = 1.36, 95%CI: 1.02-1.83, p = 0.037), recessive (adjusted OR = 1.41, 95%CI: 1.07-1.85, p = 0.015), and log-additive (adjusted OR = 1.27, 95%CI: 1.07-1.51, p = 0.006) models. 31286980 2019
dbSNP: rs115510139
rs115510139
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE In our results, we observed that rs115510139 was linked to an increased risk of lung cancer in the codominant (adjusted OR = 1.61, 95%CI: 1.14-2.27, p = 0.007), dominant (adjusted OR = 1.36, 95%CI: 1.02-1.83, p = 0.037), recessive (adjusted OR = 1.41, 95%CI: 1.07-1.85, p = 0.015), and log-additive (adjusted OR = 1.27, 95%CI: 1.07-1.51, p = 0.006) models. 31286980 2019
dbSNP: rs115510139
rs115510139
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0014859
Disease:
Esophageal Neoplasms
0.010 GeneticVariation BEFREE Stratified analysis was performed by gender, age, alcohol drinking, BMI, TNM stage and lymph node metastasis, the results showed that rs7436, rs115510139 and rs6720283 were significantly associated with the risk of EC in different groups (all p < 0.05). 31425922 2019
dbSNP: rs115510139
rs115510139
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE In our results, we observed that rs115510139 was linked to an increased risk of lung cancer in the codominant (adjusted OR = 1.61, 95%CI: 1.14-2.27, p = 0.007), dominant (adjusted OR = 1.36, 95%CI: 1.02-1.83, p = 0.037), recessive (adjusted OR = 1.41, 95%CI: 1.07-1.85, p = 0.015), and log-additive (adjusted OR = 1.27, 95%CI: 1.07-1.51, p = 0.006) models. 31286980 2019
dbSNP: rs115510139
rs115510139
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0152018
Disease:
Esophageal carcinoma
0.010 GeneticVariation BEFREE Stratified analysis was performed by gender, age, alcohol drinking, BMI, TNM stage and lymph node metastasis, the results showed that rs7436, rs115510139 and rs6720283 were significantly associated with the risk of EC in different groups (all p < 0.05). 31425922 2019
dbSNP: rs11903206
rs11903206
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.700 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084 1998
dbSNP: rs11903206
rs11903206
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.700 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448 2005
dbSNP: rs11903206
rs11903206
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.700 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756 1999
dbSNP: rs11903206
rs11903206
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
0.700 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299 2007
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: rs121434554
rs121434554
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.700 CausalMutation CLINVAR
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: rs121434555
rs121434555
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
C 0.800 CausalMutation CLINVAR
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: 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: rs1230578718
rs1230578718
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
A 0.700 GeneticVariation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
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: rs13032404
rs13032404
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE When analyzed for the association with lung squamous carcinoma, rs13032404, rs115510139 and rs3736341 were related to the risk of lung cancer. 31286980 2019