SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
Disease: Muscular Dystrophy ×
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: rs387907298
rs387907298 		0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28933693
rs28933693 		0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005