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: 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: rs2645775
rs2645775
2 237369499 intron variant G/A snv 0.24
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
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
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: 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: 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: 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: C0557874
Disease: Global developmental delay
Global developmental delay
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: 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: 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
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: 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: rs397515332
rs397515332
1.000 0.120 2 237361138 missense variant C/G;T 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 5 1994 2017
dbSNP: rs886043737
rs886043737
1.000 0.120 2 237360158 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 0.700 1.000 5 1993 2013
dbSNP: rs886044252
rs886044252
1.000 0.120 2 237360150 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 0.700 1.000 5 1994 2013
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: 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: rs886042883
rs886042883
1.000 0.120 2 237359205 splice donor variant C/A;T 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 4 2005 2017
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: rs1268762655
rs1268762655
1.000 0.120 2 237350173 missense variant C/T 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 1994 2013
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: rs1553553646
rs1553553646
1.000 0.120 2 237360140 missense variant C/A;T 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 1994 2013
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