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.
GLAUCOMA 3, PRIMARY CONGENITAL, A
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
34 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.800 1.000 20 1998 2008
ANTERIOR SEGMENT DYSGENESIS 6
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
2 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.700 0
GLAUCOMA 3, PRIMARY INFANTILE, B
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
2 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.700 0
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.060 0.833 6 2002 2019
Hydrophthalmos
CUI: C0020302
Disease: Hydrophthalmos
11 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.030 1.000 3 2003 2011
Blindness
CUI: C0456909
Disease: Blindness
34 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.010 1.000 1 2002 2002
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.010 1.000 1 2016 2016
Glaucoma of childhood
CUI: C2981140
Disease: Glaucoma of childhood
15 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.010 1.000 1 2011 2011
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
236 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.010 1.000 1 2015 2015