COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 143; N. variants: 22
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: rs786205870
rs786205870
1.000 2 237344358 missense variant C/T snp 8.0E-06 6.4E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.800 1 2015 2015
dbSNP: rs886042883
rs886042883
2 237359205 splice donor variant C/A,T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 13 2001 2017
dbSNP: rs121434553
rs121434553
1.000 0.107 2 237367151 missense variant C/T snp
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 2 1998 2006
dbSNP: rs35227432
rs35227432
1.000 0.107 2 237379103 missense variant C/A,T snp 8.0E-06; 1.5E-03 3.9E-03
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 2 2006 2007
dbSNP: rs112638391
rs112638391
1.000 0.143 2 237374900 missense variant C/T snp 3.0E-03 8.9E-04
CUI: C0410179
Disease: Scleroatonic muscular dystrophy
Scleroatonic muscular dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.700 1 2006 2006
dbSNP: rs114284669
rs114284669
1.000 0.107 2 237376802 missense variant T/C,G snp 2.1E-04 3.2E-04; 3.2E-05
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2006 2006
dbSNP: rs11903206
rs11903206
1.000 0.107 2 237336278 missense variant G/A snp 3.9E-03 1.3E-02
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2006 2006
dbSNP: rs121434555
rs121434555
1.000 0.107 2 237367010 missense variant A/C snp
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2007 2007
dbSNP: rs138049094
rs138049094
1.000 0.107 2 237369064 missense variant T/C snp 5.1E-04 1.3E-04
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2006 2006
dbSNP: rs146092501
rs146092501
1.000 0.107 2 237371861 missense variant C/T snp 6.2E-03 1.1E-02
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2006 2006
dbSNP: rs182976977
rs182976977
1.000 2 237333533 missense variant G/A,C snp 1.2E-05; 8.2E-04 5.4E-04
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs200478135
rs200478135
1.000 0.107 2 237363363 missense variant C/T snp 4.8E-05
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2006 2006
dbSNP: rs541928674
rs541928674
1.000 2 237344516 missense variant C/T snp 2.4E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs552651651
rs552651651
1.000 2 237334727 missense variant C/T snp 1.1E-03 1.6E-04
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs767517186
rs767517186
1.000 2 237334890 splice acceptor variant C/G snp 1.6E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs778940391
rs778940391
1.000 0.143 2 237367167 missense variant C/T snp 1.6E-04 2.2E-04
CUI: C0410179
Disease: Scleroatonic muscular dystrophy
Scleroatonic muscular dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.700 1 2006 2006
dbSNP: rs794727188
rs794727188
1.000 0.107 2 237360131 stop gained C/T snp
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2006 2006
dbSNP: rs797045479
rs797045479
2 237361150 stop gained G/A snp
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 1 2008 2008
dbSNP: rs80272723
rs80272723
1.000 0.143 2 237371833 missense variant C/A,T snp 1.0E-02 3.2E-05; 5.9E-03
CUI: C0410179
Disease: Scleroatonic muscular dystrophy
Scleroatonic muscular dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.700 1 2006 2006
dbSNP: rs764193290
rs764193290
1.000 2 237342163 splice acceptor variant CT/C in-del 4.0E-06
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 0
dbSNP: rs886043919
rs886043919
2 237359361 splice donor variant C/A snp
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
0.700 0
dbSNP: rs886043992
rs886043992
2 237334662 stop gained G/A snp
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0