BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Microphthalmia, syndromic 2 ×
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: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 1.000 2 2004 2009
dbSNP: rs121434619
rs121434619 		1.000 0.120 X 40072420 stop gained G/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915744
rs1555915744 		1.000 0.120 X 40064393 inframe deletion GTCTCAGTG/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915763
rs1555915763 		1.000 0.120 X 40064427 frameshift variant TT/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915785
rs1555915785 		1.000 0.120 X 40064449 frameshift variant -/G delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915854
rs1555915854 		1.000 0.120 X 40064570 frameshift variant C/- del
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555918014
rs1555918014 		1.000 0.120 X 40072857 frameshift variant CT/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569146193
rs1569146193 		1.000 0.120 X 40062394 splice acceptor variant C/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880013
rs730880013 		1.000 0.120 X 40072733 frameshift variant G/- del
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880034
rs730880034 		1.000 0.120 X 40062259 frameshift variant TGGCA/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863224850
rs863224850 		1.000 0.120 X 40062808 stop gained G/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs754807742
rs754807742 		1.000 0.120 X 40075081 missense variant C/T snv 1.7E-05 9.6E-06
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018