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: rs112638391
rs112638391
1.000 0.160 2 237374900 missense variant C/T snv 3.0E-03 3.0E-03
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: 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: rs121434553
rs121434553
1.000 0.120 2 237367151 missense 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 0.800 0
dbSNP: rs121434554
rs121434554
1.000 0.160 2 237381419 stop gained G/A snv
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: 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: 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: 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: rs1559225974
rs1559225974
1.000 0.120 2 237359238 inframe deletion CCT/- delins
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: 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: rs398124119
rs398124119
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
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: rs398124126
rs398124126
0.882 0.160 2 237361120 splice donor variant C/T snv
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
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: 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: 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: rs764193290
rs764193290
0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
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: 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: 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: rs771941724
rs771941724
1.000 0.160 2 237363366 stop gained G/A;T snv 4.0E-06; 4.0E-06
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: 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