COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs115510139
rs115510139
0.827 0.120 2 237331726 intron variant A/T snv 0.60
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
0.827 0.120 2 237331726 intron variant A/T snv 0.60
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
0.827 0.120 2 237331726 intron variant A/T snv 0.60
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
0.827 0.120 2 237331726 intron variant A/T snv 0.60
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
0.827 0.120 2 237331726 intron variant A/T snv 0.60
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
0.827 0.120 2 237331726 intron variant A/T snv 0.60
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13032404
rs13032404
0.882 0.080 2 237324840 intron variant G/A snv 0.29 0.26
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13032404
rs13032404
0.882 0.080 2 237324840 intron variant G/A snv 0.29 0.26
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13032404
rs13032404
0.882 0.080 2 237324840 intron variant G/A snv 0.29 0.26
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2645775
rs2645775
2 237369499 intron variant G/A snv 0.24
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs3736341
rs3736341
0.882 0.080 2 237361902 intron variant T/C snv 6.2E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3736341
rs3736341
0.882 0.080 2 237361902 intron variant T/C snv 6.2E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3736341
rs3736341
0.882 0.080 2 237361902 intron variant T/C snv 6.2E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
0.882 0.120 2 237401239 intron variant G/A snv 0.31
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
0.882 0.120 2 237401239 intron variant G/A snv 0.31
Secondary malignant neoplasm of lymph node
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
0.882 0.120 2 237401239 intron variant G/A snv 0.31
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
0.882 0.120 2 237401239 intron variant G/A snv 0.31
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs763187844
rs763187844
1.000 0.120 2 237396742 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs878854379
rs878854379
0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06
Congenital muscular dystrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs878854379
rs878854379
0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886043113
rs886043113
1.000 0.160 2 237347812 stop gained G/A snv 4.1E-06
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121434554
rs121434554
1.000 0.160 2 237381419 stop gained G/A snv
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553561409
rs1553561409
1.000 0.120 2 237377222 stop gained G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1559261557
rs1559261557
1.000 0.120 2 237381113 stop gained G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398124119
rs398124119
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0