FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Walker-Warburg congenital muscular dystrophy ×
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: rs563033008
rs563033008 		0.925 0.160 19 46756348 missense variant G/A snv 3.2E-05 3.1E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2003 2017