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: rs35227432
rs35227432
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: 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: 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: rs778940391
rs778940391
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 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: rs786205870
rs786205870
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C4225336
Disease:
DYSTONIA 27
0.700 GeneticVariation UNIPROT
dbSNP: rs80272723
rs80272723
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 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: 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: 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: 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
dbSNP: rs13032404
rs13032404
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0684249
Disease:
Carcinoma 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
dbSNP: rs13032404
rs13032404
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1306460
Disease:
Primary 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
dbSNP: rs3736341
rs3736341
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1306460
Disease:
Primary 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
dbSNP: rs3736341
rs3736341
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
dbSNP: rs3736341
rs3736341
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0684249
Disease:
Carcinoma 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
dbSNP: rs6720283
rs6720283
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: rs6720283
rs6720283
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: rs6720283
rs6720283
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
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: rs6720283
rs6720283
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: rs7436
rs7436
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