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: rs1562150844
rs1562150844
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0