Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434618
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 1.000 2 2004 2009
dbSNP: rs864309680
rs864309680
BCOR
1.000 0.200 X 40062174 frameshift variant TCTC/- del
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs864309702
rs864309702
BCOR
1.000 0.200 X 40074207 frameshift variant AACT/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs121434619
rs121434619
BCOR
1.000 0.120 X 40072420 stop gained G/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs144722432
rs144722432
BCOR
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 		0.700 0
dbSNP: rs1555913337
rs1555913337
BCOR
1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 0
dbSNP: rs1555915744
rs1555915744
BCOR
1.000 0.120 X 40064393 inframe deletion GTCTCAGTG/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs1555915763
rs1555915763
BCOR
1.000 0.120 X 40064427 frameshift variant TT/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs1555915785
rs1555915785
BCOR
1.000 0.120 X 40064449 frameshift variant -/G delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs1555915854
rs1555915854
BCOR
1.000 0.120 X 40064570 frameshift variant C/- del
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs1555918014
rs1555918014
BCOR
1.000 0.120 X 40072857 frameshift variant CT/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs1555918056
rs1555918056
BCOR
X 40072918 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1555919960
rs1555919960
BCOR
1.000 0.040 X 40074947 frameshift variant -/GT ins
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 0
dbSNP: rs1569146193
rs1569146193
BCOR
1.000 0.120 X 40062394 splice acceptor variant C/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs369432845
rs369432845
BCOR
X 40062275 missense variant G/A;T snv 4.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs730880013
rs730880013
BCOR
1.000 0.120 X 40072733 frameshift variant G/- del
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs730880034
rs730880034
BCOR
1.000 0.120 X 40062259 frameshift variant TGGCA/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0
dbSNP: rs780712297
rs780712297
BCOR
1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 0
dbSNP: rs863224850
rs863224850
BCOR
1.000 0.120 X 40062808 stop gained G/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.700 0