FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: Distal Muscular Dystrophies ×
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: rs387906587
rs387906587 		1.000 7 128835550 missense variant G/A snv
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs573899913
rs573899913 		7 128850448 missense variant T/G snv 9.2E-05 2.1E-05
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768941858
rs768941858 		1.000 0.080 7 128854900 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019