rs121907913, PAX6

N. diseases: 5
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.
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
32 0.827 0.080 11 31802769 missense variant G/C snv 0.700 1.000 3 1994 2003
Aniridia
CUI: C0003076
Disease: Aniridia
29 0.827 0.080 11 31802769 missense variant G/C snv 0.700 0
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
87 0.827 0.080 11 31802769 missense variant G/C snv 0.700 0
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
CUI: C4310841
Disease: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
1 0.827 0.080 11 31802769 missense variant G/C snv 0.700 0
Irido-corneo-trabecular dysgenesis (disorder)
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
12 0.827 0.080 11 31802769 missense variant G/C snv 0.010 1.000 1 1994 1994