Disease: Progressive muscle weakness ×
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: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0