FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
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: rs758552293
rs758552293 		1.000 0.080 X 136209950 missense variant C/G;T snv 5.4E-06; 5.4E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016