Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) ×
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: rs587777669
rs587777669 		1.000 0.120 4 82426523 missense variant C/G;T snv
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs1553900864
rs1553900864 		1.000 0.120 4 82427199 missense variant G/A snv
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0