rs79204362, CYP1B1

N. diseases: 10
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 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.800 0
GLAUCOMA 1, OPEN ANGLE, A
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
38 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.700 0
GLAUCOMA, EARLY-ONSET, DIGENIC
CUI: C4016760
Disease: GLAUCOMA, EARLY-ONSET, DIGENIC
1 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.700 0
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.030 1.000 3 2003 2015
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2018 2018
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2005 2005
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
236 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2018 2018
Hydrophthalmos
CUI: C0020302
Disease: Hydrophthalmos
11 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2019 2019
Intraocular pressure disorder
CUI: C0595921
Disease: Intraocular pressure disorder
56 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2015 2015
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2018 2018