FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: 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: rs121908110
rs121908110 		0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0