Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907914
rs121907914
PAX6
0.710 GeneticVariation BEFREE We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background. 22393272

2012
dbSNP: rs121907914
rs121907914
PAX6
A 0.710 CausalMutation CLINVAR