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.
Abnormality of metabolism/homeostasis
5 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
Choroidal Neovascularization
CUI: C0600518
Disease: Choroidal Neovascularization
3 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
Foveal hypoplasia (finding)
CUI: C2673946
Disease: Foveal hypoplasia (finding)
4 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
Slow decrease in visual acuity
CUI: C1853141
Disease: Slow decrease in visual acuity
3 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 1.000 20 1990 2014