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: 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: rs2571573
rs2571573 		6 129509196 intron variant G/T snv 0.61
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6923431
rs6923431 		6 129503609 intron variant A/C snv 0.63
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9321170
rs9321170 		1.000 0.040 6 129501692 intron variant G/A;C snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9388686
rs9388686 		6 129104419 intron variant A/C;T snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
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: 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: 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: 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: rs535635043
rs535635043 		1.000 0.120 6 129059863 stop gained C/A;T snv 8.0E-06; 4.0E-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 2015
dbSNP: rs553221833
rs553221833 		1.000 0.120 6 129098274 stop gained G/A snv 4.0E-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 1998 2015
dbSNP: rs762806915
rs762806915 		0.925 0.120 6 129464371 stop gained C/A snv 2.8E-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 1998 2015
dbSNP: rs773209126
rs773209126 		1.000 0.120 6 129165672 stop gained C/T 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 2010 2017
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