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: 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: rs778768583
rs778768583 		0.851 0.120 15 42410958 missense variant G/C 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 0.700 1.000 5 2005 2016
dbSNP: rs886042108
rs886042108 		0.851 0.120 15 42409930 splice acceptor variant G/C;T 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 0.700 1.000 4 1999 2016
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: rs1555421871
rs1555421871 		0.882 0.120 15 42399617 frameshift variant G/- 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 5 2005 2015
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: 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: 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: rs376107921
rs376107921 		0.925 0.120 15 42399617 missense variant G/A;C snv 6.5E-05; 4.0E-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 8 2004 2014
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: rs863224965
rs863224965 		0.925 0.120 15 42388935 inframe deletion TCCTACGAAGCTCTGAAAGGT/- 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 6 1997 2017
dbSNP: rs774048743
rs774048743 		0.925 0.120 15 42359938 missense variant G/A snv 1.2E-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 0.700 1.000 5 2004 2007
dbSNP: rs142004418
rs142004418 		0.925 0.120 15 42402878 missense variant C/G;T snv 4.0E-06; 3.6E-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 1 2005 2005
dbSNP: rs369552114
rs369552114 		0.925 0.120 15 42409786 splice acceptor variant G/A snv 1.2E-05 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 0.700 1.000 1 2007 2007
dbSNP: rs1555423217
rs1555423217 		0.925 0.120 15 42410982 frameshift variant AG/TCATCT 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 0
dbSNP: rs878854364
rs878854364 		0.925 0.120 15 42386226 stop gained C/T 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 0.700 0
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: 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: 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