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: 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: rs113155945
rs113155945 		1.000 0.080 2 237378714 missense variant C/T snv 2.6E-02 1.1E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs80272723
rs80272723 		1.000 0.160 2 237371833 missense variant C/A;T snv 1.0E-02
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 1 2005 2005
dbSNP: rs146092501
rs146092501 		1.000 0.120 2 237371861 missense variant C/T snv 6.2E-03 5.9E-03
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: 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: rs112638391
rs112638391 		1.000 0.160 2 237374900 missense variant C/T snv 3.0E-03 3.0E-03
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: rs35227432
rs35227432 		1.000 0.120 2 237379103 missense variant C/A;T snv 8.0E-06; 1.5E-03
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 5 1998 2010
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: 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: 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: rs138049094
rs138049094 		1.000 0.120 2 237369064 missense variant T/C snv 5.1E-04 3.0E-04
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 5 1998 2010
dbSNP: rs114284669
rs114284669 		1.000 0.120 2 237376802 missense variant T/C;G snv 2.1E-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: rs535661345
rs535661345 		0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-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
dbSNP: rs535661345
rs535661345 		0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs535661345
rs535661345 		0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs778940391
rs778940391 		1.000 0.160 2 237367167 missense variant C/T snv 1.6E-04 9.1E-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 1.000 1 2005 2005
dbSNP: rs766488017
rs766488017 		1.000 0.120 2 237371896 missense variant T/A snv 1.0E-04 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 0
dbSNP: rs763348222
rs763348222 		1.000 0.120 2 237348645 missense variant C/T snv 6.4E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200478135
rs200478135 		1.000 0.120 2 237363363 missense variant C/T snv 4.8E-05 3.5E-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: 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
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