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: 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