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 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2018 2018
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2015 2015
Multiple adenomatous polyps
CUI: C0334294
Disease: Multiple adenomatous polyps
5 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2007 2007
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2018 2018
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2018 2018