SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Disease: Muscular Dystrophies, Limb-Girdle ×
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: rs267607045
rs267607045 		1.000 0.200 5 156594940 missense variant G/C snv
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs397517921
rs397517921 		5 156594936 frameshift variant A/- delins
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009