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: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		0.700 1.000 3 2016 2018