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: rs1555262375
rs1555262375
1.000 0.280 10 95633026 frameshift variant A/- del
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0