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: rs11568563
rs11568563
0.925 0.240 12 21304500 missense variant T/G snv 4.5E-02 4.4E-02
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 2 2011 2012
dbSNP: rs7966334
rs7966334
1.000 0.120 12 21314281 intron variant C/G snv 0.95
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018