SGCB, sarcoglycan beta, 6443

N. diseases: 64; N. variants: 30
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: rs150518260
rs150518260 		0.925 0.200 4 52029766 missense variant G/A snv 2.8E-04 1.8E-04
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 15 1996 2018
dbSNP: rs555514820
rs555514820 		1.000 0.200 4 52029836 missense variant G/A snv 2.0E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 9 1996 2018
dbSNP: rs104893871
rs104893871 		1.000 0.200 4 52029808 missense variant A/T snv
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 8 1996 2018
dbSNP: rs28936383
rs28936383 		1.000 0.200 4 52028899 missense variant G/C snv 1.4E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 8 1995 2018
dbSNP: rs752492870
rs752492870 		0.925 0.200 4 52038229 stop gained G/A;C snv 2.3E-04
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 7 1996 2018
dbSNP: rs104893869
rs104893869 		1.000 0.200 4 52029835 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 5 1996 2018
dbSNP: rs104893870
rs104893870 		1.000 0.200 4 52029784 missense variant A/C snv
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 5 1996 2018
dbSNP: rs150518260
rs150518260 		0.925 0.200 4 52029766 missense variant G/A snv 2.8E-04 1.8E-04
CUI: C2930900
Disease: Beta-sarcoglycanopathy
Beta-sarcoglycanopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1997 2012
dbSNP: rs762412447
rs762412447 		1.000 0.200 4 52029752 missense variant T/A snv 2.0E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 5 1996 2018
dbSNP: rs886042503
rs886042503 		0.925 0.200 4 52038258 frameshift variant AT/- del 4.6E-05 3.5E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 4 2003 2015
dbSNP: rs1057516515
rs1057516515 		1.000 0.200 4 52028019 frameshift variant GAAT/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 3 1997 2015
dbSNP: rs747809412
rs747809412 		1.000 0.200 4 52033589 stop gained T/A snv 8.0E-06 7.0E-06
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2008 2015
dbSNP: rs780596734
rs780596734 		1.000 0.200 4 52028101 splice acceptor variant T/C snv 1.2E-05 1.4E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2003 2015
dbSNP: rs104893868
rs104893868 		1.000 0.200 4 52028799 stop gained A/C snv
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1995 1995
dbSNP: rs1553940262
rs1553940262 		1.000 0.200 4 52029773 stop gained G/A snv
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs762114570
rs762114570 		1.000 0.200 4 52028753 frameshift variant TTCA/- delins 4.0E-06 1.4E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2003 2003
dbSNP: rs886042503
rs886042503 		0.925 0.200 4 52038258 frameshift variant AT/- del 4.6E-05 3.5E-05
CUI: C2930900
Disease: Beta-sarcoglycanopathy
Beta-sarcoglycanopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1057516360
rs1057516360 		1.000 0.200 4 52033455 frameshift variant ACAA/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057517051
rs1057517051 		1.000 0.200 4 52028799 frameshift variant TA/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057517064
rs1057517064 		1.000 0.200 4 52038227 frameshift variant TTCTG/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057517205
rs1057517205 		1.000 0.200 4 52038252 start lost ATCTTCCCGCGCCCGCCGCCGCC/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1264362642
rs1264362642 		1.000 0.200 4 52028729 splice donor variant C/A snv 8.0E-06 7.0E-06
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1448040082
rs1448040082 		1.000 0.200 4 52038232 stop gained C/A;T snv 1.4E-05
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553940079
rs1553940079 		1.000 0.200 4 52028071 frameshift variant T/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553940274
rs1553940274 		1.000 0.200 4 52029853 frameshift variant CA/- delins
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0