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: rs749099493
rs749099493 		1.000 0.120 15 42394289 missense variant C/T snv 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 1.000 7 2005 2015
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: rs863224958
rs863224958 		1.000 0.120 15 42359951 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 0.700 1.000 7 2004 2008
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: 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: rs1274808359
rs1274808359 		1.000 0.120 15 42401667 missense variant C/T 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 0.700 1.000 6 1999 2016
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
dbSNP: rs200646556
rs200646556 		1.000 0.120 15 42399548 missense variant C/T snv 5.2E-05 5.6E-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 6 2006 2014
dbSNP: rs761211705
rs761211705 		1.000 0.120 15 42389944 intron variant G/A;C snv 2.0E-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 6 2005 2016
dbSNP: rs886042557
rs886042557 		1.000 0.120 15 42409985 missense variant 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 1.000 6 1997 2016
dbSNP: rs1275289254
rs1275289254 		1.000 0.120 15 42401811 splice donor variant G/A;T snv 4.1E-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 1999 2016
dbSNP: rs863224966
rs863224966 		1.000 0.120 15 42390034 frameshift variant GATA/CTT 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 2011
dbSNP: rs147764579
rs147764579 		1.000 0.120 15 42401752 missense variant G/A snv 5.6E-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 0.700 1.000 4 1999 2008
dbSNP: rs727503837
rs727503837 		1.000 0.120 15 42387851 inframe deletion TTCTGGAGTGCTCTG/- 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 4 1998 2014
dbSNP: rs767739787
rs767739787 		1.000 0.120 15 42402914 missense variant G/A 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 4 2002 2011
dbSNP: rs768374736
rs768374736 		1.000 0.120 15 42409845 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-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 0.700 1.000 4 1999 2016
dbSNP: rs794726871
rs794726871 		1.000 0.120 15 42359950 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 0.700 1.000 4 2007 2010
dbSNP: rs80338803
rs80338803 		1.000 0.120 15 42405932 frameshift variant AAA/-;AA;AAAA 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 4 1998 2016
dbSNP: rs1085307995
rs1085307995 		1.000 0.120 15 42392678 missense variant G/A;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 1.000 3 2006 2017
dbSNP: rs1555420468
rs1555420468 		1.000 0.120 15 42387763 missense 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 3 2007 2014
dbSNP: rs1555420765
rs1555420765 		1.000 0.120 15 42389999 missense 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 1.000 3 2009 2015
dbSNP: rs398123146
rs398123146 		1.000 0.120 15 42360025 frameshift variant -/T 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 3 1999 2016
dbSNP: rs528417986
rs528417986 		1.000 0.120 15 42390016 missense variant C/A;T snv 4.0E-06; 2.4E-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 1.000 3 2007 2014
dbSNP: rs727503839
rs727503839 		1.000 0.120 15 42402956 missense variant G/T 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 3 1997 2015
dbSNP: rs746075428
rs746075428 		1.000 0.120 15 42401681 inframe deletion GGA/- delins 1.6E-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 0.700 1.000 3 2005 2008