rs121434618, BCOR

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Microphthalmia, syndromic 2
CUI: C1846265
Disease: Microphthalmia, syndromic 2
12 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.700 1.000 2 2004 2009
Microphthalmia, syndromic 1
CUI: C0796016
Disease: Microphthalmia, syndromic 1
3 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.030 1.000 3 2004 2013
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.030 1.000 3 2009 2019
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2019 2019
Eye Manifestations
CUI: C0015411
Disease: Eye Manifestations
2 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2019 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2019 2019
Thalidomide embryopathy syndrome
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
3 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2004 2004