TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F ×
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: rs587777431
rs587777431 		1.000 0.120 7 128970293 missense variant C/G;T snv 4.1E-05
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2013 2019
dbSNP: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777430
rs587777430 		1.000 0.120 7 128957256 frameshift variant T/- del
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0