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: 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: 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: 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: 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: rs121434554
rs121434554 		1.000 0.160 2 237381419 stop gained G/A 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 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: rs1230578718
rs1230578718 		1.000 0.120 2 237380914 splice donor variant C/A snv 7.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2005 2010
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: 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: rs761796175
rs761796175 		1.000 0.120 2 237377336 stop gained G/A snv 4.2E-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: 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: 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: 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: 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: 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: 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: 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