BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Microphthalmos ×
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: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 2009 2019