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.
Body Height
CUI: C0005890
Disease: Body Height
3972 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.700 1.000 1 2019 2019
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
236 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.700 1.000 1 2016 2016
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.070 1.000 7 2014 2019
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.030 1.000 3 2014 2018
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.010 1.000 1 2019 2019
Intraocular pressure disorder
CUI: C0595921
Disease: Intraocular pressure disorder
56 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.010 1.000 1 2018 2018
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.010 1.000 1 2019 2019