DOCK1, dedicator of cytokinesis 1, 1793

N. diseases: 58; N. variants: 8
Disease: Multiple congenital anomalies ×
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: rs767858333
rs767858333 		1.000 10 127042665 frameshift variant -/G delins 4.0E-06; 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1988 2017