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: 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
dbSNP: rs7436
rs7436
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: 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: rs886043113
rs886043113
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
0.010 GeneticVariation BEFREE In family III, the patient had a nonsense mutation, R2342X, causing absence of collagen VI in muscle and fibroblasts, and a severe phenotype, as has been described in patients with UCMD. 11992252 2002
dbSNP: rs121434553
rs121434553
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1
T 0.800 CausalMutation CLINVAR
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: rs121434554
rs121434554
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1
A 0.700 CausalMutation CLINVAR