COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
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: rs387906608
rs387906608 		1.000 0.160 21 46132118 missense variant C/A;G;T snv 5.2E-06; 2.1E-05
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 0.810 1.000 4 2005 2010
dbSNP: rs121912940
rs121912940 		1.000 0.120 21 46115881 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 0.800 1.000 5 1996 2010
dbSNP: rs267606750
rs267606750 		1.000 0.120 21 46125509 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 0.800 1.000 3 2002 2010
dbSNP: rs267606747
rs267606747 		0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs117725825
rs117725825 		1.000 0.120 21 46132287 missense variant C/G;T snv 2.5E-03
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: rs1555872965
rs1555872965 		21 46116378 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1555873084
rs1555873084 		1.000 21 46116768 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2002 2015
dbSNP: rs1555873084
rs1555873084 		1.000 21 46116768 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2002 2015
dbSNP: rs267606748
rs267606748 		0.882 0.160 21 46115917 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 5 1993 2013
dbSNP: rs727502827
rs727502827 		1.000 0.120 21 46116010 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: rs747900252
rs747900252 		0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-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 2009 2015
dbSNP: rs1555873356
rs1555873356 		1.000 0.120 21 46117398 splice acceptor variant A/C;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 4 2007 2010
dbSNP: rs727502828
rs727502828 		1.000 0.120 21 46116027 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 4 1994 2013
dbSNP: rs794727418
rs794727418 		1.000 0.120 21 46125913 missense variant G/A snv 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 1.000 4 1996 2007
dbSNP: rs886042332
rs886042332 		1.000 0.120 21 46121593 missense variant G/A snv 4.0E-06 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 1.000 4 1994 2013
dbSNP: rs1555877252
rs1555877252 		1.000 0.120 21 46132064 stop gained 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 3 2009 2015
dbSNP: rs1568928804
rs1568928804 		1.000 0.120 21 46115909 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 3 1994 2013
dbSNP: rs1568929639
rs1568929639 		1.000 0.120 21 46116767 splice acceptor variant CAG/AA 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 2008 2010
dbSNP: rs387906609
rs387906609 		0.925 0.120 21 46117916 stop gained C/T snv 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 1.000 3 2009 2014
dbSNP: rs794727715
rs794727715 		1.000 0.120 21 46114074 splice donor 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 3 2008 2010
dbSNP: rs886044088
rs886044088 		1.000 0.120 21 46115918 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 3 1994 2013
dbSNP: rs75120695
rs75120695 		1.000 0.160 21 46126166 missense variant G/A;C snv 4.4E-03
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 2 2005 2005
dbSNP: rs886044023
rs886044023 		1.000 0.120 21 46117872 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: rs112153300
rs112153300 		21 46127560 intron variant G/A snv 8.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs184395229
rs184395229 		21 46129449 missense variant G/C;T snv 3.6E-04
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019