PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: FOVEAL HYPOPLASIA 1 WITH CATARACT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907920
rs121907920
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4017067
Disease:
FOVEAL HYPOPLASIA 1 WITH CATARACT 		A 0.700 CausalMutation CLINVAR