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: rs587777874
rs587777874
1.000 0.200 X 155260942 missense variant G/T snv
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2015
dbSNP: rs864309527
rs864309527
0.925 0.200 X 155260871 missense variant C/T snv
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2015