rs886041222, PAX6

N. diseases: 8
Source: CURATED ×
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 0.776 0.280 11 31793787 stop gained G/A snv 0.700 1.000 5 1999 2017
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
32 0.776 0.280 11 31793787 stop gained G/A snv 0.700 1.000 5 1999 2017
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
13 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
12 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0
FOVEAL HYPOPLASIA 1
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
4 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0
Keratitis, hereditary
CUI: C1835698
Disease: Keratitis, hereditary
2 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0
Optic Nerve Hypoplasia, Bilateral
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
4 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0
WAGR Syndrome
CUI: C0206115
Disease: WAGR Syndrome
11 0.776 0.280 11 31793787 stop gained G/A snv 0.700 0