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: rs914586984
rs914586984
1.000 0.120 17 63959275 missense variant G/C;T snv
CUI: C4022686
Disease: Myotonia of the face
Myotonia of the face
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0