COL6A1, collagen type VI alpha 1 chain, 1291

N. diseases: 164; N. variants: 45
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: rs121912939
rs121912939 		0.882 0.160 21 45989617 missense variant G/A;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 1.000 11 1994 2017
dbSNP: rs121912936
rs121912936 		1.000 0.120 21 45984403 missense variant A/G snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 1996 2017
dbSNP: rs121912935
rs121912935 		1.000 0.120 21 45990792 missense variant G/A;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1996 2010
dbSNP: rs267606746
rs267606746 		1.000 0.160 21 45989120 missense variant 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 0.800 1.000 1 2010 2010
dbSNP: rs398123643
rs398123643 		1.000 0.120 21 45989626 missense variant G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 7 2010 2019
dbSNP: rs121912938
rs121912938 		0.882 0.160 21 45989129 missense variant 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 1.000 9 1994 2014
dbSNP: rs1556425566
rs1556425566 		1.000 0.120 21 45989753 missense variant 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 1.000 6 1993 2013
dbSNP: rs1556425468
rs1556425468 		1.000 0.120 21 45989103 missense variant 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 1993 2013
dbSNP: rs201093313
rs201093313 		1.000 0.120 21 45989100 missense variant C/G;T snv 4.0E-06; 2.4E-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 5 1996 2010
dbSNP: rs398123631
rs398123631 		0.925 0.120 21 45990827 splice donor variant 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 1.000 5 1999 2013
dbSNP: rs886043321
rs886043321 		1.000 0.120 21 45990791 missense variant G/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 2005 2018
dbSNP: rs886043351
rs886043351 		1.000 0.120 21 45987638 missense variant G/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 5 1993 2013
dbSNP: rs121912938
rs121912938 		0.882 0.160 21 45989129 missense variant 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 1.000 4 2005 2010
dbSNP: rs112814811
rs112814811 		1.000 0.120 21 45998397 splice acceptor variant G/A;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 2008 2011
dbSNP: rs121912939
rs121912939 		0.882 0.160 21 45989617 missense variant G/A;C;T 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 1.000 3 2005 2007
dbSNP: rs1569519030
rs1569519030 		1.000 0.120 21 46001252 splice acceptor variant 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 3 2008 2011
dbSNP: rs886042354
rs886042354 		1.000 0.120 21 45990257 splice acceptor variant G/A;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 2008 2011
dbSNP: rs1556425717
rs1556425717 		1.000 0.120 21 45990376 splice acceptor variant A/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 1.000 2 2009 2010
dbSNP: rs1556425835
rs1556425835 		1.000 0.120 21 45990771 splice acceptor variant A/- del
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 2 2009 2010
dbSNP: rs1569518481
rs1569518481 		1.000 0.120 21 45994231 splice donor 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 1.000 2 2010 2011
dbSNP: rs398123640
rs398123640 		1.000 0.120 21 45989093 missense variant G/A;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 2 2005 2017
dbSNP: rs759918870
rs759918870 		1.000 0.120 21 46002696 splice donor variant ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC/- delins 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 2 2009 2010
dbSNP: rs13051496
rs13051496 		21 46003595 missense variant C/T snv 0.16 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs148766287
rs148766287 		21 45984508 intron variant C/G;T snv 1.0E-02; 3.1E-04
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1556425596
rs1556425596 		0.752 0.240 21 45989967 intron 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 1 2017 2017