FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT ×
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: rs122458140
rs122458140 		0.925 0.120 X 136207825 missense variant G/C snv
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2008 2017