rs11258194, OPTN

N. diseases: 9
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.
Low Tension Glaucoma
CUI: C0152136
Disease: Low Tension Glaucoma
56 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.060 1.000 6 2003 2007
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2016
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2010
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
236 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.020 1.000 2 2004 2006
Disorder of the optic nerve
CUI: C0029132
Disease: Disorder of the optic nerve
2 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
14 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006
Glaucoma, primary
CUI: C0543982
Disease: Glaucoma, primary
3 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2016 2016
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006
Optic Atrophy, Hereditary, Leber
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
46 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006