SGCB, sarcoglycan beta, 6443

N. diseases: 64; N. variants: 30
Disease: Beta-sarcoglycanopathy ×
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: 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: 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: rs752492870
rs752492870 		0.925 0.200 4 52038229 stop gained G/A;C snv 2.3E-04
CUI: C2930900
Disease: Beta-sarcoglycanopathy
Beta-sarcoglycanopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0