LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
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: rs1554269855
rs1554269855 		6 129315773 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2003 2016
dbSNP: rs121913570
rs121913570 		1.000 0.120 6 129481381 missense variant T/C snv 1.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2001 2017
dbSNP: rs775676341
rs775676341 		1.000 0.120 6 129267127 stop gained C/A;T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2001 2015
dbSNP: rs121913573
rs121913573 		1.000 0.120 6 129287893 missense variant T/C snv 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2001 2017
dbSNP: rs1018100729
rs1018100729 		1.000 0.120 6 129050088 stop gained C/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2005 2015
dbSNP: rs121913569
rs121913569 		1.000 0.120 6 129315638 stop gained C/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1995 2015
dbSNP: rs1415944134
rs1415944134 		1.000 0.120 6 129393095 frameshift variant G/-;GG delins
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2010 2018
dbSNP: rs1480934961
rs1480934961 		1.000 0.120 6 129478729 frameshift variant -/AAGA delins 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2008 2014
dbSNP: rs1554278541
rs1554278541 		1.000 0.120 6 129353162 splice acceptor variant A/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1995 2015
dbSNP: rs186538779
rs186538779 		1.000 0.120 6 129280071 missense variant A/C;G snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2015
dbSNP: rs202247790
rs202247790 		1.000 0.120 6 129252244 frameshift variant AG/- delins
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1998 2010
dbSNP: rs398123371
rs398123371 		1.000 0.120 6 129297790 stop gained C/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1998 2015
dbSNP: rs398123372
rs398123372 		1.000 0.120 6 129315549 frameshift variant T/- delins 4.2E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2005 2010
dbSNP: rs914395925
rs914395925 		1.000 0.120 6 129502657 splice acceptor variant A/G snv
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2018
dbSNP: rs1180309541
rs1180309541 		1.000 0.120 6 129316068 stop gained C/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1211739649
rs1211739649 		1.000 0.120 6 129393064 frameshift variant A/-;AAAAA delins
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12193446
rs12193446 		0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12193446
rs12193446 		0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12193446
rs12193446 		0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02
CUI: C0429494
Disease: Ocular axial length
Ocular axial length 		0.700 1.000 1 2013 2013
dbSNP: rs12205363
rs12205363 		1.000 6 129513484 intron variant T/C;G snv
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12205363
rs12205363 		1.000 6 129513484 intron variant T/C;G snv
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 1.000 1 2013 2013
dbSNP: rs1293303410
rs1293303410 		1.000 0.120 6 129481348 frameshift variant C/- del 2.1E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1338860420
rs1338860420 		1.000 0.120 6 129154599 frameshift variant A/- del
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554227092
rs1554227092 		1.000 0.120 6 129149020 frameshift variant -/CT ins
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1554286963
rs1554286963 		1.000 0.120 6 129391572 frameshift variant AAGA/- delins
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015