PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Aniridia ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907916
rs121907916
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease:
Aniridia 		A 0.710 CausalMutation CLINVAR