rs1565245598, PAX6

N. diseases: 2
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 0.925 0.080 11 31802730 frameshift variant -/C delins 0.700 0
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
32 0.925 0.080 11 31802730 frameshift variant -/C delins 0.700 0