Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907918
rs121907918
PAX6
0.800 GeneticVariation UNIPROT Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 9931324

1999
dbSNP: rs121907918
rs121907918
PAX6
0.800 GeneticVariation UNIPROT PAX6 missense mutation in isolated foveal hypoplasia. 8640214

1996
dbSNP: rs121907918
rs121907918
PAX6
A 0.800 CausalMutation CLINVAR