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: rs774277300
rs774277300
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs137852763
rs137852763
0.851 0.320 11 94476318 missense variant C/G snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.010 1.000 1 2011 2011