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: 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: rs6719451
rs6719451 		2 237428159 upstream gene variant T/C;G snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2018 2018
dbSNP: rs7599762
rs7599762 		2 237414242 upstream gene variant G/A;C;T snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2017 2017
dbSNP: rs797045479
rs797045479 		2 237361150 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs398124126
rs398124126 		0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2005 2009
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: 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: rs398124126
rs398124126 		0.882 0.160 2 237361120 splice donor variant C/T snv
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 2005 2005
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
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
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: rs398124119
rs398124119 		0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
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: rs398124119
rs398124119 		0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs398124119
rs398124119 		0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0