Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907913
rs121907913
PAX6
0.700 GeneticVariation UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955

2003
dbSNP: rs121907913
rs121907913
PAX6
0.700 GeneticVariation UNIPROT Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 10441571

1999
dbSNP: rs121907913
rs121907913
PAX6
0.700 GeneticVariation UNIPROT Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. 8162071

1994