RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Disease: microcephaly-digital anomalies syndrome ×
Source: ALL
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: rs587776884
rs587776884 		1.000 0.240 18 22993634 frameshift variant TA/- delins
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0