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: rs1816
rs1816
0.882 0.200 17 46199252 intron variant A/G snv 0.14
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002