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: rs1553553313
rs1553553313 		1.000 0.120 2 237359334 splice acceptor variant TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/- del
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: rs1553553267
rs1553553267 		1.000 0.120 2 237359235 splice acceptor variant TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- delins
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: rs797044988
rs797044988 		0.882 0.160 2 237359390 splice acceptor variant T/G snv
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 0
dbSNP: rs797044988
rs797044988 		0.882 0.160 2 237359390 splice acceptor variant T/G 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: rs797044988
rs797044988 		0.882 0.160 2 237359390 splice acceptor variant T/G 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: 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: 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: 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: rs1559225993
rs1559225993 		1.000 0.120 2 237359252 splice acceptor variant T/C 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 3 2005 2010
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: 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: 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: 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: 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: rs771941724
rs771941724 		1.000 0.160 2 237363366 stop gained G/A;T snv 4.0E-06; 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: 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: 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: 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