rs121907922, ELP4;PAX6

N. diseases: 12
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.
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.742 0.320 11 31789935 stop gained T/A snv 0.700 1.000 5 2001 2018
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
32 0.742 0.320 11 31789935 stop gained T/A snv 0.700 1.000 5 2001 2018
Aniridia
CUI: C0003076
Disease: Aniridia
29 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
14 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Congenital ocular coloboma (disorder)
21 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
FOVEAL HYPOPLASIA 1
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
4 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Keratitis, hereditary
CUI: C1835698
Disease: Keratitis, hereditary
2 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Optic Nerve Hypoplasia, Bilateral
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
4 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
WAGR Syndrome
CUI: C0206115
Disease: WAGR Syndrome
11 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0