rs74315329, MYOC;MYOCOS

N. diseases: 15
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, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 0.964 28 1997 2019
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 1.000 11 1998 2019
Abnormality of cellular immune system
3 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
Abnormality of T cell physiology
CUI: C4023166
Disease: Abnormality of T cell physiology
3 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
Combined immunodeficiency
CUI: C0494261
Disease: Combined immunodeficiency
11 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
GLAUCOMA 1, OPEN ANGLE, A
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
38 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
16 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
Intraocular pressure disorder
CUI: C0595921
Disease: Intraocular pressure disorder
56 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.070 0.857 7 1999 2017
Ocular Hypertension
CUI: C0028840
Disease: Ocular Hypertension
8 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.030 1.000 3 2001 2017
Glaucoma and ocular hypertension
CUI: C0851409
Disease: Glaucoma and ocular hypertension
1 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.010 1.000 1 2019 2019
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
236 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.010 1.000 1 1999 1999
Glaucomatous atrophy of optic disc
CUI: C0271342
Disease: Glaucomatous atrophy of optic disc
1 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.010 1 1999 1999
Low Tension Glaucoma
CUI: C0152136
Disease: Low Tension Glaucoma
56 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.010 1.000 1 2019 2019