rs28939688, OPTN

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.
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.807 0.040 10 13109270 missense variant G/A snv 0.760 1.000 16 2002 2017
GLAUCOMA 1, OPEN ANGLE, E
CUI: C1842026
Disease: GLAUCOMA 1, OPEN ANGLE, E
3 0.807 0.040 10 13109270 missense variant G/A snv 0.700 0
Low Tension Glaucoma
CUI: C0152136
Disease: Low Tension Glaucoma
56 0.807 0.040 10 13109270 missense variant G/A snv 0.070 1.000 7 2003 2018
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.807 0.040 10 13109270 missense variant G/A snv 0.060 1.000 6 2005 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.040 10 13109270 missense variant G/A snv 0.020 1.000 2 2003 2013
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.807 0.040 10 13109270 missense variant G/A snv 0.010 1.000 1 2016 2016
Intraocular pressure disorder
CUI: C0595921
Disease: Intraocular pressure disorder
56 0.807 0.040 10 13109270 missense variant G/A snv 0.010 1.000 1 2013 2013