SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Disease: Limb-girdle muscular dystrophy type 2F ×
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: rs121909297
rs121909297 		1.000 0.200 5 156759301 missense variant G/A snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 1998 1998
dbSNP: rs1554094927
rs1554094927 		1.000 0.200 5 156344488 splice acceptor variant G/A;T snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 4 1996 2008
dbSNP: rs121909295
rs121909295 		0.925 0.200 5 156595042 stop gained C/G;T snv 4.1E-06; 8.1E-06
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 1997 2009
dbSNP: rs1175344271
rs1175344271 		0.925 0.200 5 156757668 stop gained C/A snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121909296
rs121909296 		1.000 0.200 5 156344574 stop gained G/A;C;T snv 4.0E-06
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1267810339
rs1267810339 		0.925 0.200 5 156344678 splice donor variant G/A snv 4.3E-06
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554094947
rs1554094947 		1.000 0.200 5 156344556 frameshift variant -/TGGG delins
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554137109
rs1554137109 		0.925 0.200 5 156757620 frameshift variant A/- delins
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554137130
rs1554137130 		0.925 0.200 5 156757705 splice donor variant G/T snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267607045
rs267607045 		1.000 0.200 5 156594940 missense variant G/C snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397517923
rs397517923 		0.925 0.200 5 156344554 stop gained C/A;T snv 1.2E-04 6.3E-05
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503422
rs727503422 		0.925 0.200 5 156508703 splice donor variant G/A snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0