FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
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: rs121909518
rs121909518
0.882 0.120 7 128858475 stop gained G/A snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs768941858
rs768941858
1.000 0.080 7 128854900 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019