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: rs201968272
rs201968272
0.925 0.160 12 31089147 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013