FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Muscle degeneration ×
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: rs28937900
rs28937900 		0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018