BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Microphthalmia, syndromic 1 ×
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: rs144722432
rs144722432 		1.000 0.080 X 40073311 missense variant C/T snv 6.7E-04 5.2E-04
CUI: C0796016
Disease: Microphthalmia, syndromic 1
Microphthalmia, syndromic 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0796016
Disease: Microphthalmia, syndromic 1
Microphthalmia, syndromic 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 2004 2013