CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Limb-girdle muscular dystrophy type 2A ×
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: rs80338802
rs80338802 		0.925 0.120 15 42410926 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 16 1995 2017
dbSNP: rs141656719
rs141656719 		0.925 0.120 15 42401754 missense variant C/T snv 4.0E-06; 8.4E-05 1.5E-04
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 29 1995 2017
dbSNP: rs587780290
rs587780290 		1.000 0.120 15 42410646 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 24 1995 2017
dbSNP: rs776043976
rs776043976 		1.000 0.120 15 42399640 missense variant C/G;T snv 1.7E-05; 4.2E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 24 1995 2017
dbSNP: rs121434548
rs121434548 		0.925 0.120 15 42401755 missense variant G/A;C snv 6.8E-05; 4.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 22 1995 2017
dbSNP: rs149095128
rs149095128 		1.000 0.120 15 42411299 missense variant C/A snv 8.0E-05 1.7E-04
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 20 1995 2017
dbSNP: rs201736037
rs201736037 		1.000 0.120 15 42401721 missense variant A/G snv 5.6E-05 6.3E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 19 1995 2017
dbSNP: rs773827877
rs773827877 		1.000 0.120 15 42399631 missense variant G/A;C snv 1.2E-05; 4.2E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 19 1995 2017
dbSNP: rs1555421271
rs1555421271 		1.000 0.120 15 42394287 missense variant T/G snv
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 16 1995 2017
dbSNP: rs557164942
rs557164942 		1.000 0.120 15 42401763 missense variant C/G;T snv 8.0E-06; 2.8E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1995 2017
dbSNP: rs1555420634
rs1555420634 		1.000 0.120 15 42388996 missense variant G/A snv
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1995 2017
dbSNP: rs777323132
rs777323132 		0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1995 2017
dbSNP: rs369784333
rs369784333 		1.000 0.120 15 42388935 missense variant G/A snv 8.7E-05 4.2E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 1995 2017
dbSNP: rs758795961
rs758795961 		1.000 0.120 15 42387820 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 1995 2017
dbSNP: rs398123143
rs398123143 		1.000 0.120 15 42402879 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1995 2017
dbSNP: rs777483913
rs777483913 		1.000 0.120 15 42399607 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1995 2017
dbSNP: rs121434544
rs121434544 		1.000 0.120 15 42402972 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 11 1995 2017
dbSNP: rs750083132
rs750083132 		1.000 0.120 15 42410633 missense variant A/G snv 8.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 11 1995 2017
dbSNP: rs863224956
rs863224956 		1.000 0.120 15 42399641 missense variant G/A;T snv 1.3E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 1999 2014
dbSNP: rs121434547
rs121434547 		1.000 0.120 15 42392649 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 1997 2008
dbSNP: rs886042478
rs886042478 		1.000 0.120 15 42360050 missense variant C/T snv 8.0E-06 4.2E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 0.917 12 2002 2017
dbSNP: rs199806879
rs199806879 		0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 7 1997 2014
dbSNP: rs80338800
rs80338800 		0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 15 1995 2016
dbSNP: rs863224959
rs863224959 		1.000 0.120 15 42402971 missense variant C/G;T snv 1.6E-05 3.5E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 14 1995 2017
dbSNP: rs794727697
rs794727697 		1.000 0.120 15 42389051 inframe deletion GAA/- delins
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1999 2017