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: 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: rs147077184
rs147077184 		1.000 6 129349348 missense variant C/T snv 3.7E-03 3.3E-03
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.800 1.000 2 2011 2014
dbSNP: rs886039896
rs886039896 		1.000 0.120 6 129505317 missense variant G/A 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 0.800 1.000 1 2010 2010
dbSNP: rs1209130981
rs1209130981 		1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2003 2016
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: rs771046502
rs771046502 		1.000 0.120 6 129401345 splice region variant G/C snv 2.0E-05 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 5 2000 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: rs121913574
rs121913574 		0.925 0.120 6 129190317 missense variant G/A snv 4.0E-06 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: rs747349942
rs747349942 		1.000 0.120 6 129401254 stop gained C/T snv 2.8E-05 2.8E-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 3 2010 2015
dbSNP: rs749522728
rs749522728 		0.925 0.120 6 129492484 splice donor variant G/A snv 8.0E-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 3 2007 2015
dbSNP: rs749797580
rs749797580 		1.000 0.120 6 129516273 stop gained A/T snv 4.0E-06 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 3 1999 2000
dbSNP: rs756854513
rs756854513 		1.000 0.120 6 129316161 stop gained C/G;T snv 1.2E-05; 8.0E-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 3 2010 2015
dbSNP: rs758775001
rs758775001 		0.925 0.120 6 129391535 stop gained C/G;T snv 2.4E-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 0.700 1.000 3 2010 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: rs121913572
rs121913572 		0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-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 2010 2015
dbSNP: rs121913575
rs121913575 		0.925 0.120 6 129353285 stop gained C/T snv 8.0E-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 2010 2016
dbSNP: rs121913576
rs121913576 		0.925 0.120 6 129464444 stop gained C/A;T snv 8.0E-06; 2.4E-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 0.700 1.000 2 2013 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: rs200288072
rs200288072 		1.000 0.120 6 129050089 splice donor variant G/A snv 1.2E-05 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 2 2010 2015
dbSNP: rs200669208
rs200669208 		1.000 0.120 6 129464288 splice acceptor variant A/C snv 1.6E-05 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 0.700 1.000 2 2008 2015