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: rs886044052
rs886044052 		1.000 0.120 15 42411746 splice acceptor variant G/A snv 4.0E-06 1.5E-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 0
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: rs863224962
rs863224962 		1.000 0.120 15 42411285 splice acceptor variant A/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 0.700 1.000 1 2012 2012
dbSNP: rs761935462
rs761935462 		1.000 0.120 15 42411002 splice donor variant T/G snv 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 0.700 1.000 2 2007 2017
dbSNP: rs1555423222
rs1555423222 		1.000 0.120 15 42411001 splice donor variant G/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 2 2007 2008
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: rs761897806
rs761897806 		1.000 0.120 15 42410981 frameshift variant -/TC ins 3.2E-05 8.4E-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 0.700 0
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: rs1447774727
rs1447774727 		1.000 0.120 15 42410954 frameshift variant -/T delins 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 0.700 0
dbSNP: rs764086484
rs764086484 		1.000 0.120 15 42410932 frameshift variant GACA/- delins 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 3 1995 2014
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: rs868791726
rs868791726 		1.000 0.120 15 42410925 stop gained C/A;T snv 4.0E-06; 1.2E-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 0.700 1.000 7 1995 2017
dbSNP: rs886044527
rs886044527 		1.000 0.120 15 42410910 frameshift variant G/- del 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: rs764459544
rs764459544 		1.000 0.120 15 42410908 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 0.700 1.000 3 2009 2015
dbSNP: rs775130589
rs775130589 		1.000 0.120 15 42410897 frameshift variant -/A delins 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 0.700 1.000 1 2007 2007
dbSNP: rs886044475
rs886044475 		1.000 0.120 15 42410667 splice donor 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 0.700 1.000 2 1999 2005
dbSNP: rs146923842
rs146923842 		1.000 0.120 15 42410660 missense variant G/A snv 7.9E-04 7.2E-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 0.700 1.000 8 2004 2010
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: rs768090444
rs768090444 		1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 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 0.700 1.000 1 2005 2005
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: rs587780289
rs587780289 		1.000 0.120 15 42410607 frameshift variant CA/- 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 1 2005 2005
dbSNP: rs886041335
rs886041335 		1.000 0.120 15 42410586 splice acceptor variant A/G snv 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 1 1999 1999
dbSNP: rs1555423146
rs1555423146 		1.000 0.120 15 42410498 splice donor variant T/C 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 0
dbSNP: rs794727318
rs794727318 		1.000 0.120 15 42410446 missense variant C/G;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 0
dbSNP: rs200379491
rs200379491 		1.000 0.120 15 42410432 missense variant A/G snv 1.5E-04 4.9E-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 6 1999 2016