DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Myofibrillar Myopathy ×
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: rs267607485
rs267607485 		0.925 0.160 2 219425720 missense variant A/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs41272699
rs41272699 		0.925 0.160 2 219420154 missense variant C/T snv 9.2E-03 1.0E-02
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs58898021
rs58898021 		0.925 0.160 2 219421385 missense variant G/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs60538473
rs60538473 		0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs60798368
rs60798368 		0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61130669
rs61130669 		0.925 0.160 2 219421511 missense variant G/T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2013 2017
dbSNP: rs121913003
rs121913003 		0.882 0.200 2 219421532 missense variant C/T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004