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: rs7436
rs7436 		0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs7436
rs7436 		0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs7436
rs7436 		0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10
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: 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: rs182976977
rs182976977 		1.000 2 237333533 missense variant G/A;C snv 1.2E-05; 8.2E-04
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 1.000 1 2015 2015
dbSNP: rs552651651
rs552651651 		1.000 2 237334727 missense variant C/T snv 1.1E-03 3.6E-04
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 1.000 1 2015 2015
dbSNP: rs767517186
rs767517186 		0.925 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-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 2015 2015
dbSNP: rs767517186
rs767517186 		0.925 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs11903206
rs11903206 		1.000 0.120 2 237336278 missense variant G/A snv 3.9E-03 1.4E-02
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 4 1998 2007
dbSNP: rs764193290
rs764193290 		0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
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: rs764193290
rs764193290 		0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
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: rs764193290
rs764193290 		0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs786205870
rs786205870 		1.000 2 237344358 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 0
dbSNP: rs541928674
rs541928674 		1.000 2 237344516 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		0.700 1.000 1 2015 2015
dbSNP: rs139260335
rs139260335 		1.000 0.120 2 237344571 missense variant T/C snv 6.1E-04 5.6E-04
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: rs878854379
rs878854379 		0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
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