DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Disorder of skeletal muscle ×
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: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121913003
rs121913003 		0.882 0.200 2 219421532 missense variant C/T snv
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs59962885
rs59962885 		0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs61368398
rs61368398 		1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005